Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers

References

• Daly MB, Pilarski R, Yurgelun MB, et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020. J Natl Compr Canc Netw. 2020;18(4):380–391. doi:10.6004/jnccn.2020.0017
   PubMed Web of Science ®Google Scholar
• Lancaster JM, Powell CB, Chen L-M, et al. Society of gynecologic oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2015;136(1):3–7. doi:10.1016/j.ygyno.2014.09.009
   Web of Science ®Google Scholar
• Young SR, Pilarski RT, Donenberg T, et al. The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer. 2009;9(1):86. doi:10.1186/1471-2407-9-86
   PubMed Web of Science ®Google Scholar
• Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032–18037. doi:10.1073/pnas.1115052108
   PubMed Web of Science ®Google Scholar
• Kobayashi H, Ohno S, Sasaki Y, et al. Hereditary breast and ovarian cancer susceptibility genes (review). Oncol Rep. 2013;30(3):1019–1029. doi:10.3892/or.2013.2541
   Web of Science ®Google Scholar
• Ellsworth RE, Decewicz DJ, Shriver CD, et al. Breast cancer in the personal genomics era. Curr Genomics. 2010;11(3):146–161. doi:10.2174/138920210791110951
   PubMed Web of Science ®Google Scholar
• Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329–1333. doi:10.1200/JCO.2006.09.1066
   PubMed Web of Science ®Google Scholar
• Knapke S, Haidle JL, Nagy R, et al. The current state of cancer genetic counseling access and availability. Genet Med. 2016;18(4):410–412. doi:10.1038/gim.2015.98
   Web of Science ®Google Scholar
• Robson ME, Bradbury AR, Arun B, et al. American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33(31):3660–3667. doi:10.1200/JCO.2015.63.0996
   PubMed Web of Science ®Google Scholar
• Hayden S, Mange S, Duquette D, et al. Large, prospective analysis of the reasons patients do not pursue BRCA genetic testing following genetic counseling. J Genet Couns. 2017;26(4):859–865. doi:10.1007/s10897-016-0064-5
   Web of Science ®Google Scholar
• Uyar D, Neary J, Monroe A, et al. Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer. Gynecol Oncol. 2018;149(3):565–569. doi:10.1016/j.ygyno.2018.03.059
   Web of Science ®Google Scholar
• Hoskins PJ, Gotlieb WH. Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: a review of the literature. CA Cancer J Clin. 2017;67(6):493–506. doi:10.3322/caac.21408
   Web of Science ®Google Scholar
• Childers CP, Childers KK, Maggard-Gibbons M, et al. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017;35(34):3800–3806. doi:10.1200/JCO.2017.73.6314
   PubMed Web of Science ®Google Scholar
• Wright JD, Chen L, Tergas AI, et al. Underuse of BRCA testing in patients with breast and ovarian cancer. Am J Obstet Gynecol. 2016;214(6):761–763. doi:10.1016/j.ajog.2016.02.011
   Web of Science ®Google Scholar
• Randall LM, Pothuri B, Swisher EM, et al. Multi-disciplinary summit on genetics services for women with gynecologic cancers: a society of gynecologic oncology white paper. Gynecol Oncol. 2017;146(2):217–224. doi:10.1016/j.ygyno.2017.06.002
   PubMed Web of Science ®Google Scholar
• Febbraro T, Robison K, Wilbur JS, et al. Adherence patterns to national comprehensive cancer network (NCCN) guidelines for referral to cancer genetic professionals. Gynecol Oncol. 2015;138(1):109–114. doi:10.1016/j.ygyno.2015.04.029
   PubMed Web of Science ®Google Scholar
• Precision Medicine Initiative Working Group. The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. 2015.
   Google Scholar
• Committee on Gynecologic Practice. ACOG committee opinion no. 727: cascade testing: testing women for known hereditary genetic mutations associated with cancer. Obstet Gynecol. 2018;131(1):e31–e34. doi:10.1097/AOG.0000000000002457
   Web of Science ®Google Scholar
• Hughes KS. Genetic testing: what problem are we trying to solve? J Clin Oncol. 2017;35(34):3789–3791. doi:10.1200/JCO.2017.74.7899
   Web of Science ®Google Scholar
• Cornel MC, van El CG. Barriers and facilitating factors for implementation of genetic services: a public health perspective. Front Public Health. 2017;5:195. doi:10.3389/fpubh.2017.00195
   Web of Science ®Google Scholar
• Hoskovec JM, Bennett RL, Carey ME, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27(1):16–20. doi:10.1007/s10897-017-0158-8
   PubMed Web of Science ®Google Scholar
• Eismann S, Vetter L, Keller M, et al. Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer. Arch Gynecol Obstet. 2016;294(5):1011–1018. doi:10.1007/s00404-016-4133-7
   PubMed Web of Science ®Google Scholar
• Buchanan AH, Datta SK, Skinner CS, et al. Randomized trial of telegenetics vs. in-person cancer genetic counseling: cost, patient satisfaction and attendance. J Genet Couns. 2015;24(6):961–970. doi:10.1007/s10897-015-9836-6
   Web of Science ®Google Scholar
• Zierhut HA, MacFarlane IM, Ahmed Z, et al. Genetic counselors’ experiences and interest in telegenetics and remote counseling. J Genet Couns. 2018;27(2):329–338. doi:10.1007/s10897-017-0200-x
   PubMed Web of Science ®Google Scholar
• Bradbury A, Patrick-Miller L, Harris D, et al. Utilizing remote real-time videoconferencing to expand access to cancer genetic services in community practices: a multicenter feasibility study. J Med Internet Res. 2016;18(2):e23. doi:10.2196/jmir.4564
   Web of Science ®Google Scholar
• Hilgart JS, Hayward JA, Coles B, et al. Telegenetics: a systematic review of telemedicine in genetics services. Genet Med. 2012;14:765–776.
   Web of Science ®Google Scholar
• Yin K, Singh P, Drohan B, et al. Breast imaging, breast surgery, and cancer genetics in the age of COVID-19. Cancer. 2020;126:4466–4472.
   Web of Science ®Google Scholar
• McLeavy L, Rahman B, Kristeleit R, et al. Mainstreamed genetic testing in ovarian cancer: patient experience of the testing process. Int J Gynecol Cancer. 2020;30(2):221–226. doi:10.1136/ijgc-2019-000630
   Web of Science ®Google Scholar
• Scheinberg T, Young A, Woo H, et al. Mainstream consent programs for genetic counseling in cancer patients: a systematic review. Asia Pac J Clin Oncol. 2020. doi:10.1111/ajco.13334.
   Web of Science ®Google Scholar
• Greville-Heygate SL, Eccles DM, Side LE. Hereditary breast and ovarian cancer testing in the genomic era. JAMA Oncol. 2019;5(1):58. doi:10.1001/jamaoncol.2018.3034
   Web of Science ®Google Scholar
• Hall MJ, Forman AD, Pilarski R, et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014;12(9):1339–1346. doi:10.6004/jnccn.2014.0128
   PubMed Web of Science ®Google Scholar
• George R, Kovak K, Cox SL. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J Genet Couns. 2015;24(3):388–399. doi:10.1007/s10897-014-9805-5
   Web of Science ®Google Scholar
• Menko FH, Ter Stege JA, van der Kolk LE, et al. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam Cancer. 2019;18(1):127–135. doi:10.1007/s10689-018-0089-z
   PubMed Web of Science ®Google Scholar
• van der Roest WP, Pennings JM, Bakker M, et al. Family letters are an effective way to inform relatives about inherited cardiac disease. Am J Med Genet A. 2009;149A(3):357–363. doi:10.1002/ajmg.a.32672
   Web of Science ®Google Scholar
• Sermijn E, Goelen G, Teugels E, et al. The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. J Med Genet. 2004;41(3):e23. doi:10.1136/jmg.2003.011353
   Web of Science ®Google Scholar
• Sermijn E, Delesie L, Deschepper E, et al. The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam Cancer. 2016;15(2):155–162. doi:10.1007/s10689-015-9854-4
   Web of Science ®Google Scholar
• Sturm AC. Cardiovascular cascade genetic testing: exploring the role of direct contact and technology. Front Cardiovasc Med. 2016;3:11. doi:10.3389/fcvm.2016.00011
   Google Scholar
• Roberts MC, Dotson WD, DeVore CS, et al. Delivery of cascade screening for hereditary conditions: a scoping review of the literature. Aff (Millwood). 2018;37(5):801–808. doi:10.1377/hlthaff.2017.1630
   Web of Science ®Google Scholar
• Pollard S, Kalloger S, Weymann D, et al. Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication. Health Expect. 2020;23(4):884–892. doi:10.1111/hex.13062
   Web of Science ®Google Scholar
• Moghadasi S, Eccles DM, Devilee P, et al. Classification and clinical management of variants of uncertain significance in high penetrance cancer predisposition genes. Hum Mutat. 2016;37(4):331–336. doi:10.1002/humu.22956
   Web of Science ®Google Scholar
• Federici G, Soddu S. Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers. J Exp Clin Cancer Res. 2020;39(1):46. doi:10.1186/s13046-020-01554-6
   Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar
• Chang J, Seng S, Yoo J, et al. Clinical management of patients at risk for hereditary breast cancer with variants of uncertain significance in the era of multigene panel testing. Ann Surg Oncol. 2019;26(10):3389–3396. doi:10.1245/s10434-019-07595-2
   Web of Science ®Google Scholar
• Kim H-K, Lee EJ, Lee Y-J, et al. Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer. J Hum Genet. 2020;65(3):209–220. doi:10.1038/s10038-019-0713-2
   Web of Science ®Google Scholar
• Shendure J, Ji JH. Next-generation DNA sequencing. Nat Biotechnol. 2008;26(10):1135–1145. doi:10.1038/nbt1486
   PubMed Web of Science ®Google Scholar
• Fecteau H, Vogel KJ, Hanson K, et al. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns. 2014;23(4):633–639. doi:10.1007/s10897-014-9714-7
   Web of Science ®Google Scholar
• Morash M, Mitchell H, Beltran H, et al. The role of next-generation sequencing in precision medicine: a review of outcomes in oncology. J Pers Med. 2018;8(3):30. doi:10.3390/jpm8030030.
   Web of Science ®Google Scholar
• VUS genetic testing | ambry genetics. Available from: https://www.ambrygen.com/providers/bringing-clarity. Accessed December 12, 2020.
   Google Scholar
• Eggington JM, Bowles KR, Moyes K, et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet. 2014;86(3):229–237. doi:10.1111/cge.12315
   PubMed Web of Science ®Google Scholar
• AACR cancer disparities progress report 2020. Philadelphia: American Association for Cancer Research. Available from: http://www.cancerdisparitiesprogressreport.org. Accessed September 27, 2020.
   Google Scholar
• Cancer disparities. National cancer institute; 2016. Available from: https://www.cancer.gov/about-cancer/understanding/disparities. Accessed 2020.
   Google Scholar
• Mai PL, Vadaparampil ST, Breen N, et al. Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National health interview surveys. Am J Prev Med. 2014;46(5):440–448. doi:10.1016/j.amepre.2014.01.002
   PubMed Web of Science ®Google Scholar
• Rosenberg SM, Ruddy KJ, Tamimi RM, et al. BRCA1 and BRCA2 mutation testing in young women with breast cancer. JAMA Oncol. 2016;2(6):730–736. doi:10.1001/jamaoncol.2015.5941
   Web of Science ®Google Scholar
• Adams I, Christopher J, Williams KP, et al. What Black women know and want to know about counseling and testing for BRCA1/2. J Cancer Educ. 2015;30(2):344–352. doi:10.1007/s13187-014-0740-9
   Web of Science ®Google Scholar
• Sussner KM, Edwards T, Villagra C, et al. BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation. J Genet Couns. 2015;24(1):134–148. doi:10.1007/s10897-014-9746-z
   Web of Science ®Google Scholar
• Allford A, Qureshi N, Barwell J, et al. What hinders minority ethnic access to cancer genetics services and what may help? Eur J Hum. 2014;22(7):866–874. doi:10.1038/ejhg.2013.257
   PubMed Web of Science ®Google Scholar
• Saulsberry K, Terry SF. The need to build trust: a perspective on disparities in genetic testing. Genet Test Mol Biomarkers. 2013;17(9):647–648. doi:10.1089/gtmb.2013.1548
   PubMed Web of Science ®Google Scholar
• Hall M, Olopade OI. Confronting genetic testing disparities: knowledge is power. JAMA. 2005;293(14):1783–1785. doi:10.1001/jama.293.14.1783
   PubMed Web of Science ®Google Scholar
• Nelson HD, Pappas M, Cantor A, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. JAMA. 2019;322(7):666–685. doi:10.1001/jama.2019.8430
   PubMed Web of Science ®Google Scholar
• Lombardi L, Bramanti SM, Babore A, et al. Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature. Support Care Cancer. 2019;27(10):3647–3656. doi:10.1007/s00520-019-04918-7
   PubMed Web of Science ®Google Scholar
• Beran TM, Stanton AL, Kwan L, et al. The trajectory of psychological impact in BRCA1/2 genetic testing: does time heal? Ann Behav Med. 2008;36(2):107–116. doi:10.1007/s12160-008-9060-9
   PubMed Web of Science ®Google Scholar
• Smith AW, Dougall AL, Posluszny DM, et al. Psychological distress and quality of life associated with genetic testing for breast cancer risk. Psychooncology. 2008;17(8):767–773. doi:10.1002/pon.1291
   PubMed Web of Science ®Google Scholar
• Graves KD, Vegella P, Poggi EA, et al. Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice. Cancer Epidemiol Biomarkers Prev. 2012;21(3):445–455. doi:10.1158/1055-9965.EPI-11-0991
   PubMed Web of Science ®Google Scholar
• Lumish HS, Steinfeld H, Koval C, et al. Impact of panel gene testing for hereditary breast and ovarian cancer on patients. J Genet Couns. 2017;26(5):1116–1129. doi:10.1007/s10897-017-0090-y
   Web of Science ®Google Scholar
• Veneris JT, Matulonis UA, Liu JF, et al. Choosing wisely: selecting PARP inhibitor combinations to promote anti-tumor immune responses beyond BRCA mutations. Gynecol Oncol. 2020;156(2):488–497. doi:10.1016/j.ygyno.2019.09.021
   PubMed Web of Science ®Google Scholar
• Werner-Lin A, Hoskins LM, Doyle MH, et al. ‘Cancer doesn’t have an age’: genetic testing and cancer risk management in BRCA1/2 mutation-positive women aged 18–24. Health. 2012;16(6):636–654. doi:10.1177/1363459312442420
   PubMed Web of Science ®Google Scholar
• Godina L, Turchetti T, Jackson L, et al. Impact of presymptomatic genetic testing on young adults: a systematic review. Eur J Hum. 2016;24(4):496–503. doi:10.1038/ejhg.2015.153
   Web of Science ®Google Scholar