Tag Archives: Breast cancer

Detecting women’s cancer with cell phones

Researchers at Louisiana State University are working to turn cell phones into medical diagnostic tools for breast cancer. In the future, this new technology could help women screen for the BRCA gene and mutations at an affordable cost, all from the convenience of their local clinic, without having to travel to a specialist.

Read more.

WHNPs in specialty positions: My experience in breast surgical oncology

When I, Caitlyn E. Hull, sought to become a women’s health nurse practitioner (WHNP), I had not considered the variety of roles that might be available. I had imagined myself working as a generalist in an obstetrics/gynecology (Ob/Gyn) private practice or federally funded clinic like many of my professors and preceptors, and I was thrilled with the possibilities that lay ahead of me in this field. When I was offered a position as a WHNP in surgical oncology at the Stefanie Spielman Comprehensive Breast Center (Photograph), which is affiliated with The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital (The James) and Richard J. Solove Research Institute, I had several questions and hesitations. I was curious about how my education and training would be utilized in breast oncology, particularly as a new NP. Continue reading »

Dense breasts: Cancer risk and supplemental imaging modalities

By Mary Ellen Egger, APN, WHNP, CBPN and Diana L. Lam, MD

Faculty:

Mary Ellen Egger, APN, WHNP, CBPN, is a nurse practitioner in the Breast Center at Vanderbilt University in Nashville, Tennessee.

Diana L. Lam, MD, is an Assistant Professor in the Department of Radiology specializing in Breast Imaging at the University of Washington, Seattle Cancer Care Alliance, in Seattle, Washington.

Intended audience: This continuing education (CE) activity has been designed to meet the educational needs of nurse practitioners who provide care for women in any age bracket. Continue reading »

A PCP’s Guide to Managing Patients at Genetic Risk of Breast Cancer

Hereditary syndromes that increase the risk of breast cancer are not common, but it is critical to recognize and manage them appropriately. This paper reviews the management of patients with the most common hereditary breast cancer syndromes, ie, hereditary breast and ovarian cancer syndrome, hereditary diffuse gastric cancer, Cowden syndrome (PTEN hamartoma tumor syndrome), Peutz-Jeghers syndrome, and Li-Fraumeni syndrome. Continue reading »

Strategies for collecting the family history to assess risk for inherited cancer

Collection of a patient’s family history (FH) is an important tool for establishing her risk levels for certain inherited cancers. Time constraints and other barriers challenge the ability of healthcare providers to collect a complete and detailed FH, which can result in inadequate risk assessment. The author presents strategies to improve FH collection and documentation and briefly reviews guidelines for assessing patterns of risk for inherited cancers within the history.

Key words: family history, inherited cancer, genetic testing, breast cancer

In clinical practice, a patient’s family history (FH) helps establish patterns of risk for hereditary disease and serves as a component of the general health history. Collection of an FH that reflects three or more generations (siblings, parents, grandparents) is recommended to assess a patient’s genetic risk for hereditary cancers. In many cases, FHs are limited to information about first-degree relatives; these histories are rarely updated to reflect newly discovered disease in family members.1 Lack of availability or inadequate review of the FH is a missed opportunity for risk stratification for hereditary cancers, referral for genetic testing, and provision of recommendations for early screening and risk reduction strategies if needed.

Healthcare providers (HCPs) should take a complete FH at each patient’s annual well-woman visit and be able to recognize patterns of risk for inherited cancers. A woman’s genetic predisposition to hereditary cancer will have implications for screening, disease prevention, and treatment options.2 The purpose of this article is to improve the quality of FH documentation by presenting strategies to streamline collection of FH information and to review guidelines for assessing patterns of risk for inherited cancers—specifically breast cancer, reproductive cancers, and colon cancer—within the history.

Inherited genetic mutations that increase cancer risk

Although generally recognized as a risk factor for breast cancer, a mutation of breast cancer gene 1 or 2 (BRCA 1/2) imparts substantial risk for the development of other cancers as well. A mutation in BRCA 1/2 disables the ability of the gene to affect cellular repair of damaged DNA, a condition particularly associated with breast, ovarian, prostate, and pancreatic cancers.3 The pattern of inheritance is autosomal-dominant; inheritance of the BRCA 1/2 mutation may arise from either the maternal or the paternal side of the family. Women who carry a mutation on BRCA 1/2 have a 40%-80% risk of developing breast cancer and a 11%-40% risk of developing ovarian cancer in their lifetime.4 Mutations on other genes (TP53, PTEN, STK11) have been linked to high risk for breast cancer in young women, but these mutations are less common.5

Lynch syndrome (hereditary nonpolyposis colon cancer [HNPCC]), another autosomal-dominant genetic condition, places individuals at high risk for cancer by inactivating the DNA repair function coded by MSH2, a DNA mismatch repair protein, or by the gene MLH1.6 Women with Lynch syndrome have lifetime risks of 40%-60% of developing endometrial cancer and of 4%-12% of developing ovarian cancer.7,8 Women and men with this genetic condition have an 80% lifetime risk of developing colon cancer.9

Importance and implications of the family history review

For young women with no personal history of cancer (unaffected women), an FH review is an opportunity to provide anticipatory guidance. When an FH may indicate an inherited cancer, testing for the suspected genetic mutation in the affected family member(s) is recommended. Once a particular genetic mutation is identified in the family member(s), other members can be offered early screening and specific testing for the mutation.5 Early awareness is important; women who test positive for a genetic mutation that imparts cancer risk should be counseled about early screening and consideration of preventive options.

For example, emerging data have associated the BRCA1 mutation with the development of cancers caused by the deleterious effect of estrogen metabolites on DNA synthesis. This link is noteworthy in that medications that decrease or halt estrogen production (e.g., luteinizing hormone-releasing agonists) could be offered as a preventive option against breast cancer for some women.10 Studies evaluating the effectiveness of aromatase inhibitors and selective estrogen receptor modulators for cancer prevention in these groups are under way. New evidence suggests that women with BRCA1 mutations who undergo oophorectomy before age 35 have decreased mortality rates from ovarian cancer (women who have BRCA2 mutations may be able to delay this surgery until their 40s).11 Oral contraceptive use and oophorectomy are recommended for prevention of HNPCC-related cancers.8

Of note, mutations in cancer predisposition genes other than BRCA1/2 and those that cause HNPCC can place women at high risk of developing breast cancer and/or reproductive cancers. Women who test negative for BRCA or HPNCC mutations but have a strong familial picture for cancer risk should begin screening early, and options for preventive treatment should still be considered.12

Family history collection methods

Many HCPs recognize the value of the FH but cite lack of time and limited patient knowledge of their own FH as major barriers to collection of an accurate FH.13 Several studies have established that a self-collected instrument is an effective and time-efficient method of collecting FH data and identifying risk for hereditary cancers.1,14,15 Individuals who self-collect may have access to family members with better recall for third- or fourth-degree relatives.14,15 Although initiatives to develop and improve access to self-collected and archived FHs are under way, adoption of this method has been slow.16,17

The Table lists some available FH tools. The Surgeon General’s Family History Initiative advocates use of an online tool, My Family Health Portrait (MFHP), which allows individuals to collect and upload accurate FH information. The MFHP facilitates creation of a table that can be populated online and downloaded for storage and periodic updating on a computer. The printed output can be shared with HCPs to help identify specific risk patterns within the family.16,18 Although few studies have been published on the efficacy of MFHP, evidence suggests that this tool is particularly useful as a means of recording FHs of breast and ovarian cancers.19,20Table

 

Family Healthware, developed by the CDC, is a Web-based tool that integrates familial risk assessment with generation of specific health screening recommendation messages based on risk.21 Although the results of a randomized trial conducted on 3283 primary care patients that compared the clinical usefulness of the Family Healthware tool versus general cancer prevention messages were equivocal,21 the authors suggested that better engagement with the clinician and integration with a health record and decision support might improve clinical outcomes and should be incorporated in future iterations of the tool. As this issue goes to press, the CDC website for Family Healthware indicates that the Web-based tool remains in testing but may be available for research purposes by contacting the CDC.22

Myriad Genetics created the Hereditary Cancer Quiz, a four-item online assessment that purports to identify flags for hereditary breast and ovarian cancer (HBOC) and HNPCC risks.23 Individuals whose answers trigger risk flags are invited to complete a detailed online Family History Tool (FHT). The FHT is similar to the MFHP in that individuals who complete the FHT can identify patterns showing risk for hereditary cancers within their family.24 The table and pedigree generated by the FHT can be shared with a specified HCP via encrypted email. The Web interface is intuitive, and results are both easy to understand and visually attractive. Individuals can choose to create a personal account maintained on the website or use the site via a guest account. The privacy statement for the website stipulates that individuals who create an account remain guard­ians of the data, meaning that account creators control all access. However, individuals using this site should read and review the privacy statement before setting up a personal account.25 Myriad Genetics makes no statements regarding the product’s efficacy or bias.

Paper-based instruments are an effective alternative if online access or privacy is a concern. Several such instruments are available. Hughes et al26 successfully deployed a self-administered paper-based FH instrument for patients in an internal medicine practice, resulting in 6% (51/567) being referred for additional services because of high risks suggested by the FH. A Family History Collection Form created by the National Coalition for Health Professional Education in Genetics is available for download and use.27 The download site includes supplementary instructions for completing and interpreting the collected data.

Barriers for providers and patients

According to HCPs, barriers to performing an FH review include a lack of familiarity with screening recommendations for inherited cancers and a lack of knowledge regarding which patients to refer to geneticists.13 Evidence suggests that low-risk, affluent women are over-referred for genetic counseling and genetic screening tests,28,29 whereas minorities are disproportionately under-referred for these same services.30 Over-referral for genetic testing of low- to average-risk women is associated with use of patient inquiry about FH as a determinant in the decision to refer for genetic screening.29 Barriers to routine collection of FH information also include low patient reading level and privacy concerns. Special efforts may need to be extended to women with low literacy. Some cultural groups may find “keeping it on paper” problematic.31 Protocols and education programs about protections provided by the Genetic Information Nondiscrimination Act will need to be developed and communicated broadly.

Recommendations for risk assessment and referral

In an FH, presence of any of these indicators is a red flag that warrants further investigation and possible referral to a genetics counselor32:

  •  Several family members with the same or related cancers
  • Early age of onset for cancer
  • Male breast cancer
  • Ashkenazi Jewish descent

The American College [now Congress] of Obstetricians and Gynecologists (ACOG) recommends genetic counseling and screening for unaffected women with a close relative who has been diagnosed with ovarian cancer or a BRCA1/2 mutation.33 In addition, women who have male relatives with breast cancer, multiple cases of breast cancer among close relatives, or close relatives diagnosed with breast cancer at an early age should be offered genetic screening.33 The most recent screening/genetics referral recommendations by the National Comprehensive Cancer Network are similar to those of ACOG, with an additional recommendation to offer genetic risk assessment for unaffected individuals who have more than one family member on the same side affected by any of these cancers: endometrial cancer, pancreatic cancer, aggressive prostate cancer, brain tumors, leukemia/lymphoma, thyroid cancer, or diffuse gastrointestinal cancer.34

Implementation

Under the Affordable Care Act, coverage was extended for preventive health services, including genetic counseling and BRCA testing if a woman’s FH shows evidence of risk for deleterious mutations.35 Commencement of screening for cervical cancer is an opportune time to introduce the idea of FH data collection to young women. A few minutes could be used to discuss the benefits of FH awareness and to pre­sent options for data collection (online or paper tool). Women can choose to begin collecting FH data prior to their next scheduled annual visit, which will allow them and their families to discuss family members’ health histories and have adequate time to gather missing details. Interventions and screening should start early; beginning the process in a woman’s early 20s allows adequate time to collect information, determine risk, and, if necessary, refer for screening.

Conclusion

The information and resources provided in this article are intended to facilitate collection and interpretation of the FH during the annual well-woman visit. Hereditary patterns of disease are most readily identified by review of a comprehensive FH. As such, HCPs need to develop skills in collecting and interpreting FHs. Improved collection and documentation skills for HCPs may have a profound impact on decisions about further screening, disease prevention, and treatment options for inherited cancer.

Mary Elizabeth “Betsy” Guimond is Assistant Professor of Nursing at Robert Morris University in Pittsburgh, Pennsylvania. The author states that she does not have a financial interest in or other relationship with any commercial product named in this article.

Suggested reading
Cancer Genetics Risk Assessment and Counseling–for health professionals (PDQ®). Updated July 17, 2015. cancer.gov/about-cancer/causes-prevention/genetics/risk-assessment-pdq

References
1. van Altena AM, van Aarle S, Kiemeney LA, et al. Adequacy of family history taking in ovarian cancer patients: a population-based study. Fam Cancer. 2012;11(3):343-349.

2. Nilsson MP, Hartman L, Idvall I, et al. Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status. Breast Cancer Res Treatment. 2014;144(1):133-142.

3. Yoshida K, Miki Y. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Science. 2004;95(11):866-871.

4. Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 hereditary breast and ovarian cancer. GeneReviews®. 2013. ncbi.nlm.nih.gov/books/NBK1247/

5. Woodson AH, Profato JL, Muse KI, Litton JK. Breast cancer in the young: role of the geneticist. J Thorac Dis. 2013;(5 suppl 1):S19-S26.

6. Vasen HF. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer. 2005;4(3):219-225.

7. Auranen A, Joutsiniemi T. A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand. 2011; 90(5):437-444.

8. Lu K, Daniels M. Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer. 2013; 12(2):273-277.

9. Kohlmann W, Gruber SB. Lynch syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington; 2014.

10. Savage KI, Matchett KB, Barros EM, et al. BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability. Cancer Res. 2014;74(10):2773-2784.

11. Finch APM, Lubinski J, Møller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-1553.

12. Berliner J, Fay A, Cummings S, et al. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;22(2):155-163.

13. Wood ME, Stockdale A, Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract. 2008;25(5):334-340.

14. Vogel TJ, Stoops K, Bennett RL, et al. A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk. Gynecol Oncol. 2012;125(3):693-698.

15. Armel SR, McCuaig J, Finch A, et al. The effectiveness of family history questionnaires in cancer genetic counseling. J Genet Couns. 2009; 18(4):366-378.

16. Carmona RH, Wattendorf DJ. Personalizing prevention: the US Surgeon General’s family history initiative. Am Fam Physician. 2005;71(1):36-39.

17. Owens K, Marvin M, Gelehrter T, et al. Clinical use of the surgeon general’s “My Family Health Portrait” (MFHP) tool: opinions of future health care providers. J Genet Couns. 2011;20(5):510-525.

18. Flynn B, Wood M, Ashikaga T, et al. Primary care physicians’ use of family history for cancer risk assessment. BMC Fam Pract. 2010;11(1):45.

19. U.S. Surgeon General. My family health portrait. U.S. Department of Health & Human Services, Office of the Surgeon General; 2007.

20. Facio FM, Feero WG, Linn A, et al. Validation of My Family Health Portrait for six common heritable conditions. Genet Med. 2010;12(6):370-375.

21. Rubinstein WS, Acheson LS, O’Neill SM, et al. Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial. Genet Med. 2011;13(11):956-965.

22. Centers for Disease Control and Prevention. Public Health Genomics. Family History. Family History Collection Tools. Family healthware™. June 20, 2013. cdc.gov/genomics/famhistory/resources/tools.htm

23. Myriad Genetic Laboratories. Heriditary Cancer Quiz™. 2014. hereditarycancerquiz.com/

24. Myriad Genetic Laboratories. Family History Tool™. fht.myriad.com/app/#/get-started

25. Myriad Genetic Laboratories. Terms of Use/Privacy policy. fht.myriad.com/app/#/terms

26. Hughes KS, Roche C, Campbell CT, et al. Prevalence of family history of breast and ovarian cancer in a single primary care practice using a self-administered questionnaire. Breast J. 2003;9(1):19-25.

27. National Coalition for Health Professional Education in Genetics. The Jackson Laboratory. Family History Tool. 2014. nchpeg.org/index.php?option=com_content&view=article&id=61&Itemid=74.

28. White DB, Bonham VL, Jenkins J, et al. Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev. 2008;17(11): 2980-2986.

29. Bellcross CA, Kolor K, Goddard KA, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med. 2011;40(1):61-66.

30. Trivers KF, Baldwin LM, Miller JW, et al. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study. Cancer. 2011; 117(23):5334-5343.

31. Thompson T, Seo J, Griffith J, et al. “You don’t have to keep everything on paper”: African American women’s use of family health history tools. J Community Genet. 2013;4(2):251-261.

32. National Coalition for Health Professional Education in Genetics. The Jackson Laboratory. Interpreting the Family History. 2014. nchpeg.org/index.php?option=com_content&view=article&id=170&Itemid=64

33. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009;113(4):957-966.

34. Daly MB, Pilarski R, Axilbund JE, et al. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014; 12(9):1326-1338.

35. Centers for Medicare & Medicaid Services. Affordable Care Act Implementation FAQs – Set 12. cms.gov/CCIIO/
Resources/Fact-Sheets-and-FAQs/aca_implementation_faqs12.html

Research reveals which breast implants pose the greatest risk of implant-associated cancer

Researchers at Macquarie University’s MQ Health have revealed that women implanted with textured breast implants are at a significantly higher risk of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL).

Read more at medxpress

Promise of PARP Inhibitors for BRCA1/BRCA2 Cancers

For patients with triple-negative breast cancer and BRCA1/BRCA2 mutations, current treatment options may at times be limited; currently, there are no specific treatments for BRCA1/BRCA2-mutated cancers that address the genetic defects seen in these cancers. However, there is growing interest in the use of Poly (ADP-ribose) polymerase (PARP) inhibitors in this setting.

Promise of PARP inhibition in BRCA-mutated disease

“In patients with BRCA1/BRCA2 mutations, PARP inhibitors are one of the most promising treatments to be tested recently in clinical trials,” says Jame Abraham, MD, Director of Cleveland Clinic Cancer Center’s Medical Breast Oncology Program and Co-Director of the Comprehensive Breast Cancer Program.

PARP inhibitors interfere with base excision repair and therefore DNA repair, to effect death of tumor cells. PARP inhibitors can be highly lethal to tumor cells in patients who already have impaired DNA repair from BRCA mutation, Dr. Abraham says.

Although triple-negative breast cancer can be sporadic, these cancers share traits that involve DNA repair defects with those occurring in BRCA-mutated carriers. Eighty percent of hereditary BRCA-mutated cancers share the triple-negative breast cancer phenotype. The prevalence of BRCA1 and BRCA2 mutations in triple-negative breast cancer ranges from 4 to 14.3 percent, and an additional 27 to 37 percent have somatic inactivation of BRCA1.

As a class, PARP inhibitors can cause profound damage to cancer cells in breast cancers that involve DNA repair pathway defects. A number of PARP inhibitors are undergoing clinical development, but none is yet FDA-approved for breast cancer.

OlympiAD and OlympiA: Clinical trial experience with olaparib

Cleveland Clinic is currently participating in two phase III clinical trials evaluating olaparib as a treatment for metastatic breast cancer as well as for stage II/III BRCA1/BRCA2, HER2-negative and triple-negative disease.

OlympiAD, the phase III trial on olaparib in metastatic breast cancer is ongoing but no longer recruiting participants and results are expected soon. In the meantime, Cleveland Clinic is enrolling patients in the OlympiA study, a phase III trial with olaparib as an adjuvant treatment for earlier-stage breast cancers with DNA repair defects — that is, in women with stage II and stage III breast cancer who have completed local treatment and neoadjuvant or adjuvant chemotherapy.

“We have enough evidence from metastatic breast cancer trials to know that olaparib is active in stage IV breast cancer. So now we want to see what kind of benefit stage II/III breast cancer patients will derive from use of olaparib,” Dr. Abraham says.

Olaparib was the first PARP inhibitor approved by both the FDA and the European Medicines Agency for patients with BRCA1/2 mutant ovarian cancer. In 2014, the FDA approved olaparib for patients with germline BRCA-mutated ovarian cancer who have undergone three or more lines of chemotherapy. The treatment was approved along with the BRACAnalysis CDx, a companion diagnostic test.

Read more at Cleveland Clinic

Implementation of the Female Sexual Function Index adaptation for breast cancer patients in an outpatient surgical breast practice

The average woman has a 12.3% lifetime risk of being diagnosed with breast cancer.1 The number of breast cancer survivors continues to increase because of advancements in early detection and successful treatment of the disease.1 This rise in survival rate is generating greater attention on post-treatment effects and the importance of evaluating quality of life (QOL) for these patients. Many women treated for cancer experience problems related to sexual health and intimacy in particular.High levels of evidence support screening breast cancer survivors for sexual dysfunction, which can improve patient satisfaction and QOL.3,4

Purpose

Sexual dysfunction is recognized as a major problem following cancer treatment, which leads to increased distress and decreased QOL.2,4 The primary goal of this scholarly project was to implement the Female Sexual Function Index adaptation for breast cancer patients (FSFI-BC), an evidence-based, validated tool to screen for sexual dysfunction among breast cancer survivors.3 The FSFI-BC is a 33-item screening tool that uses Likert-scale questions to assess aspects of sexual functioning such as changes after cancer, desire, lubrication, orgasm, pain, reasons for sexual inactivity, and distress regarding sexual functioning. Use of this screening tool gives breast cancer survivors the opportunity to identify a sexual problem they may be having, discuss it with their healthcare provider (HCP), and begin treatment for it if indicated.

Method

The institutional review board approved this quality improvement project. Patients meeting inclusion criteria received an information letter discussing the screening tool and project purpose at their clinic visit check-in. Inclusion criteria included female gender; English speaker; age, 18-80 years; reader on at least a fifth-grade level; and a personal history of breast cancer diagnosed at least 1 year previously. Participants could be of any race, ethnic group, marital status, or socioeconomic status. Consenting participants completed the screening tool and demographic information sheet (de-identified to maintain confidentiality) prior to seeing the HCP. The project leader scored the data based on clinical interpretation guidelines3 and shared results with participants during their visit. Participants who screened positive for sexual dysfunction were given the opportunity to discuss treatment options and referral to appropriate specialists.

Outcomes

During a 3-week data collection period, 49 of 66 patients who met inclusion criteria participated in the project. Among the 49 participants, 4 (8.2%) were excluded because of missing data and 5 (10.2%) had  sexual functioning that was equal or superior to that prior to their diagnosis. The remaining 40 participants (81.6%) met criteria for further evaluation based on FSFI-BC scores. Among these 40 participants, 22 (55%) were not distressed about their sexual functioning, 12 (30%) were distressed about their sexual functioning at least half the time,  and 6 (15%) were excluded for missing data regarding distress (Figure).

Limitations

The project was limited by the short interval for implementation and by incomplete surveys, which limited comparison of different facets of sexual dysfunction. In addition, the limited time frame for implementation did not allow for follow-up evaluation of outcomes for treatment recommendations or referrals made.

Implications for women’s health

Advanced practice nurses (APNs) serve a critical role in the comprehensive care and support of breast cancer survivors. Identification of sexual dysfunction is key to the evaluation and management necessary for survivors’ improved health outcomes. This project supports use of the FSFI-BC by APNs in identifying survivors with sexual dysfunction. In addition, APNs who perform this screening should have the knowledge and skills to address sexual function concerns and/or make appropriate referrals.

Stefani E. Davis is an advanced practice provider at OhioHealth Breast & Cancer Surgeons in Columbus, Ohio. Karen A. Hande is Assistant Professor and Ginny Moore is Assistant Professor and Director for the Women’s Health Nurse Practitioner Specialty, both at Vanderbilt University School of Nursing in Nashville, Tennessee. The authors state that they do not have a financial interest in or other relationship with any commercial product named in this article.

References

1. Desantis C, Ma J, Bryan L, Jemal A. Breast cancer statistics, 2013. CA Cancer J Clin. 2013;64(1):52-62.

2. Dizon DS, Suzin D, McIlvenne S. Sexual health as a survivorship issue for female cancer survivors. Oncologist. 2014;19(2):202-210.

3. Bartula I. Sherman KA. Development and validation of the female sexual function index adaptation for breast cancer patients (FSFI-BC). Breast Cancer Res Treat. 2015; 152(3):477-488.

4. Jeffery DD, Barbera L, Andersen BL, et al. Self-reported sexual function measures administered to female cancer patients: a systematic review, 2008-2014. J Psychosoc Oncol. 2015;33(4):433-466.

5. Cole CF. Breast cancer survivor satisfaction with NP-delivered follow-up care. Womens Healthcare. 2013; 1(1):16-21.

New Agents, Combinations Showing Durable Benefit in Triple-Negative Breast Cancer

The triple-negative breast cancer (TNBC) pipeline is transforming, experts say, with the potential additions of immunotherapy and PARP inhibitors. These agents are being explored both as monotherapy and in combination regimens with standard chemotherapy options.

At the 2016 San Antonio Breast Cancer Symposium, treatment with pembrolizumab (Keytruda) continued to show a consistent durable benefit with an additional year of follow-up for heavily pretreated patients with recurrent PD-L1–positive TNBC, according to findings from the phase Ib KEYNOTE-012 trial.

At a median follow-up of 10.7 months, the median progression-free survival (PFS) was 1.9 months (95% CI, 1.6-5.5), and the 12-month PFS rate was 17.8%. The median overall survival (OS) was 11.3 months (95% CI, 5.3-18.2), and the 12-month OS rate was 47.1%.

In a recent interview, Joyce A. O’Shaughnessy, MD, chair of Breast Cancer Research at Baylor-Sammons Cancer Center, Texas Oncology, addressed some of the key issues in breast cancer treatment and shared insights on where TNBC treatment is headed based on recent research findings.

Read more at Oncology Nursing News

Text message reminders to increase breast self-awareness practices in young women

PDF 50

By Tara Fernandez Bertulfo, DNP, ARNP

Text message reminders were studied as an innovative, low cost method of improving adherence to monthly breast self examination/breast self-awareness among college-aged women. Results of this pilot study are presented and discussed in this article.

KEY WORDS: breast cancer, breast self-examination, breast self awareness, text message reminder, college-aged women

Each year in the United States, more than 200,000 women are diagnosed with breast cancer.1 Aside from nonmelanoma skin cancer, breast cancer is the most common form of cancer in women. Breast cancer is the No. 1 cause of cancer death in Hispanic women and the second most common cause of cancer death in women in all other ethnic groups in the U.S2

The major strategy to reduce breast cancer mortality is early detection. Breast cancers found during regular screening examinations, as opposed to those found because of symptoms, are more likely to be smaller and still confined to the breast; these two factors are the most important in determining prognosis.3 Early detection techniques include screening modalities such as mammography, clinical breast examination (CBE), breast self-examination (BSE), and breast self-awareness (BSA).

Breast self-examination

Breast self-examination, taught to women for years, consists of sequential steps (done in the shower, before a mirror, and lying down) and observations for changes or inconsistencies from one breast to the other.4 Premenopausal women are advised to perform BSE once a month—about 1 week following menses.

Breast self-awareness 

More recently, there has been a movement toward teaching BSA, a less formal approach to breast cancer self-screening. This approach places less emphasis on technique and timing and more  emphasis on a woman’s ability to be familiar with the look and feel of her breasts so that she can be alert to any changes that may occur and seek further evaluation by a healthcare provider (HCP).

With BSA, no formal method for examining the breasts is taught. Instead, women are encouraged to know their family history, understand risk reduction strategies, and be observant for any changes in their breasts by periodically viewing and feeling the entire area, including the breasts, collarbone, and underarms.5 To practice breast self-awareness, a woman is instructed to be alert to changes such as (a) a lump, hard knot, or thickening inside the breast or underarm area; (b) swelling, warmth, redness, or darkening of the breast; (c) change in the size or shape of the breast; (d) dimpling or puckering of the skin; (e) itchy, scaly sore or rash on the nipple; (f ) pulling in of the nipple or other parts of the breast; (g) nipple discharge that starts suddenly; or (h) pain in one spot that does not go away.6

Because BSE efficacy is controversial (related to inadequate evidence of lowered mortality as a result of its use), other than CBE, being breast aware is the only method that most women younger than 40 can use to screen
for breast cancer. Under ideal circumstances, HCPs should start educating and encouraging women to begin self-screening in early adulthood, before breast cancer risk begins to rise. The American Cancer Society,7 the National Comprehensive Cancer Network,8 the American Congress of Obstetricians and Gynecologists,9 and the Susan G. Komen Foundation6 now endorse BSA as an alternative to BSE.

Of note, women younger than 40 who have an increased risk for breast cancer (e.g., because of family history, a known genetic mutation, or a history of chest radiation) have different screening recommendations that include,
but are not limited to, CBE and BSA. Women who are older than 40, who may be having regular mammograms, should still be encouraged to remain breast aware.

Self-screening reminders

Multiple national and international studies have evaluated breast self-screening behavior.10-13 Commonly reported reasons for not performing the recommended self-screening are forgetting or being too busy.10,12,14 Many strategies to remind women to self-screen, including shower cards, oral contraceptive packaging, and, more recently, smartphone applications, have been used. However, among collegeaged women, one strategy that has not been widely tested is use of a text message reminder (TMR). With this strategy, a monthly text message reminds a woman to take a few minutes to focus on her breast health.

Several studies examining the use of text messaging in healthcare have shown that TMRs improve outpatient clinical attendance,15 improve adherence to asthma treatment,16 encourage weight loss,17 improve adherence to daily intake of vitamin C supplements,18 and support patients with diabetes.19 A study by Armstrong et al20 evaluated the effect of TMRs on adherence to sunscreen application among 70 participants from the general community. Throughout the 6-week study, half the participants received daily TMRs and half did not. TMR recipients, versus the controls, were nearly twice as likely to maintain a regimen of daily sunscreen use throughout the study period.

Text message reminders are easy to implement and may be particularly appealing to younger people, an important target population for the development of positive health habits. With this in mind, and with the goal of promoting monthly breast cancer self-screening in early adulthood, the investigator recruited college-aged women for
this pilot study. Pre- and post-intervention questionnaires were used to assess participants’ baseline selfscreening frequency and beliefs regarding its importance; their perceptions of the usefulness and acceptability of the TMR; and whether they performed selfscreening following its receipt.

Pilot study

Methods
A pilot project using a descriptive, one-group, pre-test/post-test study design was conducted to explore the usefulness and acceptability of a TMR to perform BSE.* The study was approved by the Institutional Review Boards at the institution where the investigator was a student and at the site where the study was conducted.

Participants and setting
A convenience sample (N = 62) was recruited from first-year, second-semester, baccalaureate nursing students
enrolled in nursing classes at a southern university. These students were chosen because they were in the age group of interest and because they had been previously instructed in BSE. As such, the study questions did not need to focus on whether participants knew how to examine their breasts, whether they had been formally taught this technique, or whether they felt comfortable with their skills in this area.

Procedure
After providing written informed consent, participants completed a self-administered baseline questionnaire and demographic form. The questionnaire, developed by the investigator, was used to establish the frequency with which the participants performed BSE, as well as their beliefs about BSE. Along with written informed consent, participants provided a mobile phone number to receive a text message and authorized the investigator to send them a TMR. The investigator then manually entered the mobile phone numbers into the Google Voice website. One week later, the investigator sent a text message, Time for your monthly breast self-exam, to each participant simultaneously via Google Voice.

About 1 month after the TMR was sent, participants were asked to complete a follow-up questionnaire developed by the investigator. The questionnaire was used to ascertain whether participants performed BSE, as well as their perceptions of the effectiveness and acceptability of the TMR.

Results
Demographic characteristics of the sample are shown in Table 1. Mean age of the participants was 22 years (SD, 1.44). Most participants were white, never-married women who did not have a family history of breast cancer. Data on BSE behaviors were collected from all participants at baseline (Table 2). Among the 34 participants who reported not having performed BSE in the past 3 months (n = 32) or who were uncertain about it (n = 2), reasons for not doing so included I forgot (n = 15), I don’t think about it (n = 15), I’m not sure what I’m feeling (n= 3), I’m too busy (n = 1), and I’m too young (n = 1).

Table 1

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Table 2 White space

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Table 3 shows participants’ beliefs about BSE at baseline. Among 11 beliefs examined, those with which participants agreed most strongly included the following: It is important to begin breast health screening at a young age; When a breast lump is found early, it is easier to treat; BSE is a valuable tool that can detect breast cancer earlier; BSE is quick and easy to do; and The women in my family would want me to perform BSE. Beliefs with which participants disagreed most strongly were as follows: I am too young to get breast cancer; and Breast self-exam is not necessary at my age.

Table 3

Overall performance of BSE increased significantly following the TMR (Table 4). When the 62 participants were asked whether the TMR helped them follow their plan to perform BSE, 47 (75.8%) agreed or strongly agreed with the statement, 9 (14.5%) disagreed, and 6 (9.7%) were uncertain. When asked whether they felt that the TMRs would help them make BSE part of their usual self-care routine, 58 participants (93.6%) agreed or strongly agreed.

Table 4

Of note, participants with a family history of breast cancer were no more likely than those without such a history to perform BSE after receiving the TMR. In addition, no association was found between whether or not participants
reported My healthcare provider encourages me to be aware of changes in the look and feel of my breasts and whether they performed BSE following the TMR.

Discussion
The baseline data showed that participants believed BSE was important for women in their age group. Nevertheless, 50% of participants had not performed BSE in the previous 3 months, with most reporting that they did not do so because they forgot or did not think about it. This study confirms findings from previously mentioned studies about the use of TMRs to improve adherence to health-promoting behaviors.

Although most participants found the TMR acceptable, helpful, and easy to use, the timing of the TMR was found to be an important factor in terms of both the decision to perform BSE (or not) and the amount of time between receiving the TMR and performing BSE. In consideration of this important finding, methods for allowing patients to choose the timing of a TMR should be considered for use in practice. This approach may help decrease the number of women who forget to perform BSE following the TMR, who have another priority at the time that the TMR is received, or who report the timing of the TMR as inconvenient.

Now that this trial is complete, women who were satisfied with the TMR were asked to inform their friends about it so that they, too, could register for the service. A plan is in place to promote this idea through student health services by advertising the availability of the TMR to young women who attend the clinic. This approach can help create initial knowledge of the innovation, which can then be reinforced by peer encouragement.

Limitations
This pilot study used a TMR to target forgetfulness; however, many other factors could contribute to non-adherence to BSE. Use of a control group would have strengthened the rigor of the study and will be considered for future research based on this pilot work. In addition, the sample for this study comprised nursing students from one southern university BSN program. Applicability of the findings to the general population of college-aged women is
unknown.

Implications for practice
In addition to promoting breast self-screening, TMRs could be used to help promote other aspects of health in young women. Text messages can remind young women of a return appointment for a DMPA injection, for chlamydia re-screening in 3 months following treatment, for annual checkups, and the like. These reminders can be implemented by college health centers, private offices, public health clinics, or any clinical setting that serves young women. Because TMR recipients would be providing their mobile phone numbers and granting permission for TMRs to be sent, and because no personal health information would be provided in these simple reminders, this system would not compromise HIPAA standards, particularly with regard to a reminder to self-screen for breast cancer. If a woman decides to receive multiple TMRs, and a particular reminder concerns a potentially sensitive situation such as a DMPA injection or chlamydia rescreening, the wording of the text message could be coded rather than explicit.

At the first clinic visit, the use and benefits of TMRs could be explained to the patient. The patient could then be asked (1) for permission to receive TMRs, (2) to provide a mobile phone number for this purpose, and (3) whether she prefers a specific day of the week or time of day to receive a TMR. At each subsequent visit, the patient could be asked to verify her mobile phone number and her preferences for the timing of TMRs.

Ease of implementation is a key factor for HCPs in a college health setting or other outpatient setting. Through use of Google Voice, one can send a large number of text messages at once free of charge. Text messages can be sent via Google Voice directly using a Google account; sent and received via email or IM interface by reading
and writing text messages in Gmail; or by adding contacts’ phone numbers in Google Talk (PC-to-phone texting). In addition, automated text message services send group text messages for a set fee, which decreases the amount of time required to send the TMRs and allows HCPs the opportunity to choose when the message will be sent.

Conclusion

Text message reminders are an innovative, easily implemented strategy that may increase adherence to breast cancer self-screening recommendations, as well as other self-care practices among college-aged women. Through use of current technology such as text messaging, HCPs can play a key role in endorsing positive health habits that may promote wellness in young women for a lifetime.

Tara Fernandez Bertulfo is a women’s health nurse practitioner and Clinical Assistant Professor at Georgia Baptist College of Nursing, Mercer University, in Atlanta, Georgia. The author states that she does not have a financial interest in or other relationship with any commercial product named in this article.

References
1. U.S. Department of Health and Human Services, National Institutes of Health, National Cancer Institute.
What You Need to Know About Breast Cancer (NIH Publication No. 09-1556). 2012. cancer.gov/cancertopics/
insides-wyntk-breast.pdf

2. Centers for Disease Control and Prevention. Breast Cancer Statistics. 2014. cdc.gov/cancer/breast/statistics/

3. American Cancer Society. Breast Cancer: Early Detection. 2014. cancer. org/acs/groups/cid/documents/
webcontent/003165-pdf.pdf

4. National Breast Cancer Foundation. Breast Self-Exam. 2012. nationalbreastcancer. org/breast-self-exam

5. M.D. Anderson Cancer Center. Breast Self Awareness. 2012.

6. Susan G. Komen Foundation. Breast Self-Awareness. 2015. komen.org/BreastCancer/Breast-SelfAwareness.html

7. American Cancer Society. Breast Cancer Prevention and Early Detection. Breast awareness and self-exam.
2014. cancer.org/cancer/breastcancer/moreinformation/breastcancerearlydetection/breast-cancerearly-detection-acs-recs-bse

8. National Comprehensive Cancer Network. Stage 0 Breast Cancer. NCCN Guidelines for Patients. 2014. nccn.org/patients/guidelines/stage_0_breast/files/assets/common/downloads/files/stage_0_breast.pdf

9. American Congress of Obstetricians and Gynecologists. Breast Screening: Mammography and Breast Self-Awareness. 2012. acog.org/Patients/FAQs/Breast-Screening-Mammography-and-Breast-Self-Awareness

10. Budden L. Registered nurses’ breast self-examination practice and teaching to female clients. J Community
Health Nurs. 1998;15(2):101-112.

11. Friedman LC, Nelson DV, Webb JA, et al. Dispositional optimism, self efficacy and health beliefs as predictors of breast self-examination. Am J Prev Med. 1994;10(3):130-135.

12. Mason TE, White KM. The role of behavioral, normative and control beliefs in breast self-examination.
Women Health. 2008;47(3):39-56.

13. Tavafian SS, Hasani L, Aghamolaei T, et al. Prediction of breast selfexamination in a sample of Iranian
women: an application of the Health Belief Model. BMC Womens Health. 2009;9(37):1-7.

14. Ahuja S, Chakrabarti N. To determine the level of knowledge regarding breast cancer and to increase
awareness about breast cancer screening practices among a group of women in a tertiary care hospital in
Mumbai, India. Internet J Public Health. 2009;1(1).

15. Koshy E, Car J, Majeed A. Effectiveness of mobile-phone short message service (SMS) reminders for ophthalmology outpatient appointments: observational study. BMC Ophthalmol. 2008;8:9.

16. Strandbygaard U, Thomsen SF, Backer V. A daily SMS reminder increases adherence to asthma treatment:
a three-month follow-up study. Respir Med. 2010;104(2):166-171.

17. Patrick K, Raab F, Adams MA, et al. A text message based intervention for weight loss: randomized controlled
trial. J Med Internet Res. 2009;11(1):e1.

18. Cocosila M, Archer N, Haynes RB, Yuan Y. Can text messaging improve adherence to preventive activities?
Results of a randomized controlled trial. Int J Med Inform. 2009; 78(4):230-238.

19. Waller A, Franklin V. Pagilari C, Greene S. Participatory design of a text message scheduling system to
support young people with diabetes. J Health Inform. 2006;12(4):304-318.

20. Armstrong AW, Watson AJ, Makredes M, et al. Text-message reminders to improve sunscreen use. Arch Dermatol. 2009;145(11):1230-1236.

*Because the terms breast self-examination, breast self-exam, and BSE are more widely recognized than the newer terms breast self-awareness and BSA, a decision was made to use the former terms in the questionnaires and TMR. In addition, because both BSE and BSA are tools that women can use to screen themselves for breast cancer, the specific technique used by the study participants to examine their breasts was not evaluated, and no distinction between the two screening methods was made.

Strategies for collecting the family history to assess risk for inherited cancer

PDF 50

By Mary Elizabeth “Betsy” Guimond, PhD, WHNP-BC

Collection of a patient’s family history (FH) is an important tool for establishing her risk levels for certain inherited cancers. Time constraints and other barriers challenge the ability of healthcare providers to collect a complete and detailed FH, which can result in inadequate risk assessment. The author presents strategies to improve FH collection and documentation and briefly reviews guidelines for assessing patterns of risk for inherited cancers within the history.

Key words: family history, inherited cancer, genetic testing, breast cancer

In clinical practice, a patient’s family history (FH) helps establish patterns of risk for hereditary disease and serves as a component of the general health history. Collection of an FH that reflects three or more generations (siblings, parents, grandparents) is recommended to assess a patient’s genetic risk for hereditary cancers. In many cases, FHs are limited to information about first-degree relatives; these histories are rarely updated to reflect newly discovered disease in family members.1 Lack of availability or inadequate review of the FH is a missed opportunity for risk stratification for hereditary cancers, referral for genetic testing, and provision of recommendations for early screening and risk reduction strategies if needed.

Healthcare providers (HCPs) should take a complete FH at each patient’s annual well-woman visit and be able to recognize patterns of risk for inherited cancers. A woman’s genetic predisposition to hereditary cancer will have implications for screening, disease prevention, and treatment options.2 The purpose of this article is to improve the quality of FH documentation by presenting strategies to streamline collection of FH information and to review guidelines for assessing patterns of risk for inherited cancers—specifically breast cancer, reproductive cancers, and colon cancer—within the history.

Inherited genetic mutations that increase cancer risk

Although generally recognized as a risk factor for breast cancer, a mutation of breast cancer gene 1 or 2 (BRCA 1/2) imparts substantial risk for the development of other cancers as well. A mutation in BRCA 1/2 disables the ability of the gene to affect cellular repair of damaged DNA, a condition particularly associated with breast, ovarian, prostate, and pancreatic cancers.3 The pattern of inheritance is autosomal-dominant; inheritance of the BRCA 1/2 mutation may arise from either the maternal or the paternal side of the family. Women who carry a mutation on BRCA 1/2 have a 40%-80% risk of developing breast cancer and a 11%-40% risk of developing ovarian cancer in their lifetime.4 Mutations on other genes (TP53, PTEN, STK11) have been linked to high risk for breast cancer in young women, but these mutations are less common.5

Lynch syndrome (hereditary nonpolyposis colon cancer [HNPCC]), another autosomal-dominant genetic condition, places individuals at high risk for cancer by inactivating the DNA repair function coded by MSH2, a DNA mismatch repair protein, or by the gene MLH1.6 Women with Lynch syndrome have lifetime risks of 40%-60% of developing endometrial cancer and of 4%-12% of developing ovarian cancer.7,8 Women and men with this genetic condition have an 80% lifetime risk of developing colon cancer.9

Importance and implications of the family history review

For young women with no personal history of cancer (unaffected women), an FH review is an opportunity to provide anticipatory guidance. When an FH may indicate an inherited cancer, testing for the suspected genetic mutation in the affected family member(s) is recommended. Once a particular genetic mutation is identified in the family member(s), other members can be offered early screening and specific testing for the mutation.5 Early awareness is important; women who test positive for a genetic mutation that imparts cancer risk should be counseled about early screening and consideration of preventive options.

For example, emerging data have associated the BRCA1 mutation with the development of cancers caused by the deleterious effect of estrogen metabolites on DNA synthesis. This link is noteworthy in that medications that decrease or halt estrogen production (e.g., luteinizing hormone-releasing agonists) could be offered as a preventive option against breast cancer for some women.10 Studies evaluating the effectiveness of aromatase inhibitors and selective estrogen receptor modulators for cancer prevention in these groups are under way. New evidence suggests that women with BRCA1 mutations who undergo oophorectomy before age 35 have decreased mortality rates from ovarian cancer (women who have BRCA2 mutations may be able to delay this surgery until their 40s).11 Oral contraceptive use and oophorectomy are recommended for prevention of HNPCC-related cancers.8

Of note, mutations in cancer predisposition genes other than BRCA1/2 and those that cause HNPCC can place women at high risk of developing breast cancer and/or reproductive cancers. Women who test negative for BRCA or HPNCC mutations but have a strong familial picture for cancer risk should begin screening early, and options for preventive treatment should still be considered.12

Family history collection methods

Many HCPs recognize the value of the FH but cite lack of time and limited patient knowledge of their own FH as major barriers to collection of an accurate FH.13 Several studies have established that a self-collected instrument is an effective and time-efficient method of collecting FH data and identifying risk for hereditary cancers.1,14,15 Individuals who self-collect may have access to family members with better recall for third- or fourth-degree relatives.14,15 Although initiatives to develop and improve access to self-collected and archived FHs are under way, adoption of this method has been slow.16,17

The Table lists some available FH tools. The Surgeon General’s Family History Initiative advocates use of an online tool, My Family Health Portrait (MFHP), which allows individuals to collect and upload accurate FH information. The MFHP facilitates creation of a table that can be populated online and downloaded for storage and periodic updating on a computer. The printed output can be shared with HCPs to help identify specific risk patterns within the family.16,18 Although few studies have been published on the efficacy of MFHP, evidence suggests that this tool is particularly useful as a means of recording FHs of breast and ovarian cancers.19,20Table

 

Family Healthware, developed by the CDC, is a Web-based tool that integrates familial risk assessment with generation of specific health screening recommendation messages based on risk.21 Although the results of a randomized trial conducted on 3283 primary care patients that compared the clinical usefulness of the Family Healthware tool versus general cancer prevention messages were equivocal,21 the authors suggested that better engagement with the clinician and integration with a health record and decision support might improve clinical outcomes and should be incorporated in future iterations of the tool. As this issue goes to press, the CDC website for Family Healthware indicates that the Web-based tool remains in testing but may be available for research purposes by contacting the CDC.22

Myriad Genetics created the Hereditary Cancer Quiz, a four-item online assessment that purports to identify flags for hereditary breast and ovarian cancer (HBOC) and HNPCC risks.23 Individuals whose answers trigger risk flags are invited to complete a detailed online Family History Tool (FHT). The FHT is similar to the MFHP in that individuals who complete the FHT can identify patterns showing risk for hereditary cancers within their family.24 The table and pedigree generated by the FHT can be shared with a specified HCP via encrypted email. The Web interface is intuitive, and results are both easy to understand and visually attractive. Individuals can choose to create a personal account maintained on the website or use the site via a guest account. The privacy statement for the website stipulates that individuals who create an account remain guard­ians of the data, meaning that account creators control all access. However, individuals using this site should read and review the privacy statement before setting up a personal account.25 Myriad Genetics makes no statements regarding the product’s efficacy or bias.

Paper-based instruments are an effective alternative if online access or privacy is a concern. Several such instruments are available. Hughes et al26 successfully deployed a self-administered paper-based FH instrument for patients in an internal medicine practice, resulting in 6% (51/567) being referred for additional services because of high risks suggested by the FH. A Family History Collection Form created by the National Coalition for Health Professional Education in Genetics is available for download and use.27 The download site includes supplementary instructions for completing and interpreting the collected data.

Barriers for providers and patients

According to HCPs, barriers to performing an FH review include a lack of familiarity with screening recommendations for inherited cancers and a lack of knowledge regarding which patients to refer to geneticists.13 Evidence suggests that low-risk, affluent women are over-referred for genetic counseling and genetic screening tests,28,29 whereas minorities are disproportionately under-referred for these same services.30 Over-referral for genetic testing of low- to average-risk women is associated with use of patient inquiry about FH as a determinant in the decision to refer for genetic screening.29 Barriers to routine collection of FH information also include low patient reading level and privacy concerns. Special efforts may need to be extended to women with low literacy. Some cultural groups may find “keeping it on paper” problematic.31 Protocols and education programs about protections provided by the Genetic Information Nondiscrimination Act will need to be developed and communicated broadly.

Recommendations for risk assessment and referral

In an FH, presence of any of these indicators is a red flag that warrants further investigation and possible referral to a genetics counselor32:

  •  Several family members with the same or related cancers
  • Early age of onset for cancer
  • Male breast cancer
  • Ashkenazi Jewish descent

The American College [now Congress] of Obstetricians and Gynecologists (ACOG) recommends genetic counseling and screening for unaffected women with a close relative who has been diagnosed with ovarian cancer or a BRCA1/2 mutation.33 In addition, women who have male relatives with breast cancer, multiple cases of breast cancer among close relatives, or close relatives diagnosed with breast cancer at an early age should be offered genetic screening.33 The most recent screening/genetics referral recommendations by the National Comprehensive Cancer Network are similar to those of ACOG, with an additional recommendation to offer genetic risk assessment for unaffected individuals who have more than one family member on the same side affected by any of these cancers: endometrial cancer, pancreatic cancer, aggressive prostate cancer, brain tumors, leukemia/lymphoma, thyroid cancer, or diffuse gastrointestinal cancer.34

Implementation

Under the Affordable Care Act, coverage was extended for preventive health services, including genetic counseling and BRCA testing if a woman’s FH shows evidence of risk for deleterious mutations.35 Commencement of screening for cervical cancer is an opportune time to introduce the idea of FH data collection to young women. A few minutes could be used to discuss the benefits of FH awareness and to pre­sent options for data collection (online or paper tool). Women can choose to begin collecting FH data prior to their next scheduled annual visit, which will allow them and their families to discuss family members’ health histories and have adequate time to gather missing details. Interventions and screening should start early; beginning the process in a woman’s early 20s allows adequate time to collect information, determine risk, and, if necessary, refer for screening.

Conclusion

The information and resources provided in this article are intended to facilitate collection and interpretation of the FH during the annual well-woman visit. Hereditary patterns of disease are most readily identified by review of a comprehensive FH. As such, HCPs need to develop skills in collecting and interpreting FHs. Improved collection and documentation skills for HCPs may have a profound impact on decisions about further screening, disease prevention, and treatment options for inherited cancer.

Mary Elizabeth “Betsy” Guimond is Assistant Professor of Nursing at Robert Morris University in Pittsburgh, Pennsylvania. The author states that she does not have a financial interest in or other relationship with any commercial product named in this article.

Suggested reading
Cancer Genetics Risk Assessment and Counseling–for health professionals (PDQ®). Updated July 17, 2015. cancer.gov/about-cancer/causes-prevention/genetics/risk-assessment-pdq

References
1. van Altena AM, van Aarle S, Kiemeney LA, et al. Adequacy of family history taking in ovarian cancer patients: a population-based study. Fam Cancer. 2012;11(3):343-349.

2. Nilsson MP, Hartman L, Idvall I, et al. Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status. Breast Cancer Res Treatment. 2014;144(1):133-142.

3. Yoshida K, Miki Y. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Science. 2004;95(11):866-871.

4. Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 hereditary breast and ovarian cancer. GeneReviews®. 2013. ncbi.nlm.nih.gov/books/NBK1247/

5. Woodson AH, Profato JL, Muse KI, Litton JK. Breast cancer in the young: role of the geneticist. J Thorac Dis. 2013;(5 suppl 1):S19-S26.

6. Vasen HF. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer. 2005;4(3):219-225.

7. Auranen A, Joutsiniemi T. A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand. 2011; 90(5):437-444.

8. Lu K, Daniels M. Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer. 2013; 12(2):273-277.

9. Kohlmann W, Gruber SB. Lynch syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington; 2014.

10. Savage KI, Matchett KB, Barros EM, et al. BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability. Cancer Res. 2014;74(10):2773-2784.

11. Finch APM, Lubinski J, Møller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-1553.

12. Berliner J, Fay A, Cummings S, et al. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;22(2):155-163.

13. Wood ME, Stockdale A, Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract. 2008;25(5):334-340.

14. Vogel TJ, Stoops K, Bennett RL, et al. A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk. Gynecol Oncol. 2012;125(3):693-698.

15. Armel SR, McCuaig J, Finch A, et al. The effectiveness of family history questionnaires in cancer genetic counseling. J Genet Couns. 2009; 18(4):366-378.

16. Carmona RH, Wattendorf DJ. Personalizing prevention: the US Surgeon General’s family history initiative. Am Fam Physician. 2005;71(1):36-39.

17. Owens K, Marvin M, Gelehrter T, et al. Clinical use of the surgeon general’s “My Family Health Portrait” (MFHP) tool: opinions of future health care providers. J Genet Couns. 2011;20(5):510-525.

18. Flynn B, Wood M, Ashikaga T, et al. Primary care physicians’ use of family history for cancer risk assessment. BMC Fam Pract. 2010;11(1):45.

19. U.S. Surgeon General. My family health portrait. U.S. Department of Health & Human Services, Office of the Surgeon General; 2007.

20. Facio FM, Feero WG, Linn A, et al. Validation of My Family Health Portrait for six common heritable conditions. Genet Med. 2010;12(6):370-375.

21. Rubinstein WS, Acheson LS, O’Neill SM, et al. Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial. Genet Med. 2011;13(11):956-965.

22. Centers for Disease Control and Prevention. Public Health Genomics. Family History. Family History Collection Tools. Family healthware™. June 20, 2013. cdc.gov/genomics/famhistory/resources/tools.htm

23. Myriad Genetic Laboratories. Heriditary Cancer Quiz™. 2014. hereditarycancerquiz.com/

24. Myriad Genetic Laboratories. Family History Tool™. fht.myriad.com/app/#/get-started

25. Myriad Genetic Laboratories. Terms of Use/Privacy policy. fht.myriad.com/app/#/terms

26. Hughes KS, Roche C, Campbell CT, et al. Prevalence of family history of breast and ovarian cancer in a single primary care practice using a self-administered questionnaire. Breast J. 2003;9(1):19-25.

27. National Coalition for Health Professional Education in Genetics. The Jackson Laboratory. Family History Tool. 2014. nchpeg.org/index.php?option=com_content&view=article&id=61&Itemid=74.

28. White DB, Bonham VL, Jenkins J, et al. Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev. 2008;17(11): 2980-2986.

29. Bellcross CA, Kolor K, Goddard KA, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med. 2011;40(1):61-66.

30. Trivers KF, Baldwin LM, Miller JW, et al. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study. Cancer. 2011; 117(23):5334-5343.

31. Thompson T, Seo J, Griffith J, et al. “You don’t have to keep everything on paper”: African American women’s use of family health history tools. J Community Genet. 2013;4(2):251-261.

32. National Coalition for Health Professional Education in Genetics. The Jackson Laboratory. Interpreting the Family History. 2014. nchpeg.org/index.php?option=com_content&view=article&id=170&Itemid=64

33. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009;113(4):957-966.

34. Daly MB, Pilarski R, Axilbund JE, et al. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014; 12(9):1326-1338.

35. Centers for Medicare & Medicaid Services. Affordable Care Act Implementation FAQs – Set 12. cms.gov/CCIIO/
Resources/Fact-Sheets-and-FAQs/aca_implementation_faqs12.html