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Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper

      Highlights

      • The Society of Gynecologic Oncology convened a multidisciplinary Genetics Summit.
      • The benefits and challenges of genetic risk assessment were discussed.
      • Minimum standards for genetic risk assessment are suggested.
      • Suggestions for further research and educational efforts are communicated.

      Abstract

      Objective

      To assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers.

      Methods

      The Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing.

      Results

      The group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care.
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      References

        • Norquist B.M.
        • Pennington K.P.
        • Agnew K.J.
        • Harrell M.I.
        • Pennil C.C.
        • Lee M.K.
        • et al.
        Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.
        Gynecol. Oncol. 2013; 128: 483-487
        • U.S. Preventive Services Task Force
        Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement.
        Ann. Intern. Med. 2005 Sep 6; 143 (Review. Erratum in: Ann Intern Med.2005 Oct 4;143(7):547. PubMed PMID: 16144894): 355-361
        • SGO Position Statement
        Genetic testing for gynecologic cancer.
        • Lancaster J.M.
        • Powell C.B.
        • Chen L.M.
        • Richardson D.L.
        • Committee S.G.O.C.P.
        Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions.
        Gynecol. Oncol. 2015; 136: 3-7
        • Hampel H.
        • Bennett R.L.
        • Buchanan A.
        • Pearlman R.
        • Wiesner G.L.
        Guideline development group, American college of medical genetics and genomics professional practice and guidelines committee and national society of genetic counselors practice guidelines committee. A practice guideline from the American college of medical genetics and genomics and the national society of genetic counselors: referral indications for cancer predisposition assessment.
        Genet. Med. 2015 Jan; 17: 70-87
        • Meyer L.A.
        • Anderson M.E.
        • Lacour R.A.
        • Suri A.
        • Daniels M.S.
        • Urbauer D.L.
        • et al.
        Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities.
        Obstet. Gynecol. 2010; 115: 945-952
        • Metcalfe K.A.
        • Fan I.
        • McLaughlin J.
        • Risch H.A.
        • Rosen B.
        • Murphy J.
        • et al.
        Uptake of clinical genetic testing for ovarian cancer in Ontario: a population-based study.
        Gynecol. Oncol. 2009; 112: 68-72
        • Levy D.E.
        • Byfield S.D.
        • Comstock C.B.
        • Garber J.E.
        • Syngal S.
        • Crown W.H.
        • et al.
        Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk.
        Genet. Med. 2011; 13: 349-355
        • Pal T.
        • Bonner D.
        • Cragun D.
        • Monteiro A.N.
        • Phelan C.
        • Servais L.
        • et al.
        A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
        Cancer. Dec 1 2015; 121: 4173-4180
        • Kaufman B.
        • Shapira-Frommer R.
        • Schmutzler R.K.
        • Audeh M.W.
        • Friedlander M.
        • Balmana J.
        • et al.
        Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation.
        J. Clin. Oncol. 2015; 33: 244-250
        • Food and Drug Administration Approved Drugs
        Olaparib.
        • Swisher E.M.
        • Lin K.K.
        • Oza A.M.
        • Scott C.L.
        • Giordano H.
        • Sun J.
        • Konecny G.E.
        • Coleman R.L.
        • Tinker A.V.
        • O'Malley D.M.
        • Kristeleit R.S.
        • Ma L.
        • KM Bell-McGuinn
        • Brenton J.D.
        • Cragun J.M.
        • Oaknin A.
        • Ray-Coquard I.
        • Harrell M.I.
        • Mann E.
        • Kaufmann S.H.
        • Floquet A.
        • Leary A.
        • Harding T.C.
        • Goble S.
        • Maloney L.
        • Isaacson J.
        • Allen A.R.
        • Rolfe L.
        • Yelensky R.
        • Raponi M.
        • IA McNeish
        Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial.
        Lancet Oncol. 2017 Jan; 18: 75-87
      1. (Accessed 1.14.17)
        • Le D.T.
        • Uram J.N.
        • Wang H.
        • Bartlett B.R.
        • Kemberling H.
        • Eyring A.D.
        • et al.
        PD-1 blockade in tumors with mismatch-repair deficiency.
        N. Engl. J. Med. 2015 Jun 25; 372: 2509-2520
        • Fader A.N.
        • Diaz L.A.
        • Armstrong D.K.
        • Tanner E.J.
        • Uram J.
        • Eyring A.
        • et al.
        Preliminary results of a phase II study: PD-1 blockade in mismatch repair–deficient, recurrent or persistent endometrial cancer.
        in: Late Breaking Abstract 3, SGO 47th Annual Meeting on Women's Cancer, San Diego, CA. 2016
        • CDC
        Office of Public Health Genomics - genomic tests and family history by levels of evidence.
        • The Precision Medicine Initiative
        • Collins F.S.
        • Varmus H.
        A new initiative on precision medicine.
        N. Engl. J. Med. 2015; 372: 793-795
        • Antoniou A.
        • Pharoah P.D.
        • Narod S.
        • Risch H.A.
        • Eyfjord J.E.
        • Hopper J.L.
        • et al.
        Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies.
        Am. J. Hum. Genet. 2003; 72: 1117-1130
        • Pal T.
        • Permuth-Wey J.
        • Betts J.A.
        • Krischer J.P.
        • Fiorica J.
        • Arango H.
        • et al.
        BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.
        Cancer. 2005; 104: 2807-2816
        • Welcsh P.L.
        • King M.C.
        BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.
        Hum. Mol. Genet. 2001; 10: 705-713
        • Konstantinopoulos P.A.
        • Spentzos D.
        • Karlan B.Y.
        • Taniguchi T.
        • Fountzilas E.
        • Francoeur N.
        • Levine D.A.
        • Cannistra S.A.
        Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer.
        J. Clin. Oncol. 2010 Aug 1; 28: 3555-3561
        • Ledermann J.
        • Harter P.
        • Gourley C.
        • Friedlander M.
        • Vergote I.
        • Rustin G.
        • et al.
        Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial.
        Lancet Oncol. 2014; 15: 852-861
        • Candido-dos-Reis F.J.
        • Song H.
        • Goode E.L.
        • Cunningham J.M.
        • Fridley B.L.
        • Larson M.C.
        • et al.
        Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.
        Clin. Cancer Res. 2015; 21: 652-657
        • McLaughlin J.R.
        • Rosen B.
        • Moody J.
        • Pal T.
        • Fan I.
        • Shaw P.A.
        • et al.
        Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2.
        J. Natl. Cancer Inst. 2013; 105: 141-148
        • Lesnock J.L.
        • Darcy K.M.
        • Tian C.
        • Deloia J.A.
        • Thrall M.M.
        • Zahn C.
        • et al.
        BRCA1 expression and improved survival in ovarian cancer patients treated with intraperitoneal cisplatin and paclitaxel: a gynecologic oncology group study.
        Br. J. Cancer. 2013; 108: 1231-1237
        • Norquist B.S.
        • Brady M.F.
        • Harrell M.I.
        • Walsh T.
        • Lee M.K.
        • Gulsuner S.I.
        • et al.
        Mutations in homologous recombination genes and response to treatment in GOG 218: an NRG Oncology study.
        in: Abstract 1, SGO 47th Annual Meeting on Women's Cancer, San Diego, CA. 2016
        • Pennington K.P.
        • Swisher E.M.
        Hereditary ovarian cancer: beyond the usual suspects.
        Gynecol. Oncol. 2012; 124: 347-353
        • Walsh T.
        • Casadei S.
        • Lee M.K.
        • Pennil C.C.
        • Nord A.S.
        • Thornton A.M.
        • 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: 18032-18037
        • Norquist B.M.
        • Harrell M.I.
        • Brady M.F.
        • Walsh T.
        • Lee M.K.
        • Gulsuner S.
        • et al.
        Inherited mutations in women with ovarian carcinoma.
        JAMA Oncol. 2015 Dec; 30: 1-9
        • Randall L.M.
        • Pothuri B.
        The genetic prediction of risk for gynecologic cancers.
        Gynecol Oncol. 2016 Apr; 141: 10-16
        • Lu K.H.
        • Dinh M.
        • Kohlmann W.
        • Watson P.
        • Green J.
        • Syngal S.
        • Bandipalliam P.
        • Chen L.M.
        • Allen B.
        • Conrad P.
        • Terdiman J.
        • Sun C.
        • Daniels M.
        • Burke T.
        • Gershenson D.M.
        • Lynch H.
        • Lynch P.
        • Broaddus R.R.
        Gynecologic cancer as a “sentinel cancer” for.women with hereditary nonpolyposis colorectal cancer syndrome.
        Obstet. Gynecol. 2005 Mar; 105: 569-574
        • Soliman P.T.
        • Broaddus R.R.
        • Schmeler K.M.
        • Daniels M.S.
        • Gonzalez D.
        • Slomovitz B.M.
        • Gershenson D.M.
        • Lu K.H.
        Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome?.
        J. Clin. Oncol. 2005 Dec 20; 23: 9344-9350
        • Walsh C.S.
        • Blum A.
        • Walts A.
        • Alsabeh R.
        • Tran H.
        • Koeffler H.P.
        • Karlan B.Y.
        Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.
        Gynecol. Oncol. 2010 Mar; 116: 516-521
        • McMeekin D.S.
        • Tritchler D.L.
        • Cohn D.E.
        • Mutch D.G.
        • Lankes H.A.
        • Geller M.A.
        • Powell M.A.
        • Backes F.J.
        • Landrum L.M.
        • Zaino R.
        • Broaddus R.D.
        • Ramirez N.
        • Gao F.
        • Ali S.
        • Darcy K.M.
        • Pearl M.L.
        • DiSilvestro P.A.
        • Lele S.B.
        • Goodfellow P.J.
        Clinicopathologic significance of mismatch repair defects in endometrial cancer: an NRG oncology/gynecologic oncology group study.
        J. Clin. Oncol. 2016 Jun; 20
        • Committee opinion no. 634
        Hereditary cancer syndromes and risk assessment.
        Obstet. Gynecol. 2015; 125: 1538-1543
        • Umar A.
        • Boland C.R.
        • Terdiman J.P.
        • Syngal S.
        • de la Chapelle A.
        • Ruschoff J.
        • et al.
        Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
        J. Natl. Cancer Inst. 2004; 96: 261-268
        • Committee on Practice Bulletins-Gynecology Society of Gynecologic Oncology
        ACOG practice bulletin no. 147: lynch syndrome.
        Obstet. Gynecol. 2014; 124: 1042-1054
        • Wood M.E.
        • Kadlubek P.
        • Pham T.H.
        • Wollins D.S.
        • Lu K.H.
        • Weitzel J.N.
        • Neuss M.N.
        • Hughes K.S.
        Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology quality oncology practice initiative.
        J. Clin. Oncol. 2014 Mar 10; 32: 824-829
        • Cohen S.A.
        • Marvin M.L.
        • Riley B.D.
        • Vig H.S.
        • Rousseau J.A.
        • Gustafson S.L.
        Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force.
        J. Genet. Couns. 2013; 22: 411-421
        • Robson M.E.
        • Bradbury A.R.
        • Arun B.
        • Domchek S.M.
        • Ford J.M.
        • Hampel H.L.
        • Lipkin S.M.
        • Syngal S.
        • Wollins D.S.
        • Lindor N.M.
        American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
        J. Clin. Oncol. 2015 Nov 1; 33: 3660-3667
        • Knapke S.
        • Haidle J.L.
        • Nagy R.
        • Pirzadeh-Miller S.
        The current state of cancer genetic counseling access and availability.
        Genet Med. Apr 2015; 18: 410-412
        • U.S. Department of Health & Human Services
        Coverage and reimbursement of genetic tests and services: report of the secretary's advisory committee on genetics, health, and society.
        • Scwartz M.D.
        • et al.
        Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.
        J. Clin. Oncol. 2014; 32: 618-626
        • Sutphen R.
        • Davila B.
        • Shappell H.
        • Holtje T.
        • Vadaparampil S.
        • Friedman S.
        • et al.
        Real world experience with cancer genetic counseling via telephone.
        Familial Cancer. 2010; 9: 681-689
        • Schwartz M.D.
        • Valdimarsdottir H.B.
        • Peshkin B.N.
        • Mandelblatt J.
        • Nusbaum R.
        • Huang A.T.
        • et al.
        Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.
        J. Clin. Oncol. 2014; 32: 618-626
        • Peshkin B.N.
        • Kelly S.
        • Nusbaum R.H.
        • Similuk M.
        • TA DeMarco
        • Hooker G.W.
        • et al.
        Patient perceptions of telephone vs. in-person BRCA1/BRCA2 genetic counseling.
        J. Genet. Couns. Jun 2015; 25: 472-482
        • Buchanan A.H.
        • Datta S.K.
        • Skinner C.S.
        • Hollowell G.P.
        • Beresford H.F.
        • Freeland T.
        • et al.
        Randomized trial of telegenetics vs. in-person cancer genetic counseling: cost, patient satisfaction and attendance.
        J. Genet. Couns. 2015; 24: 961-970
        • Zilliacus E.M.
        • Meiser B.
        • Lobb E.A.
        • Kelly P.J.
        • Barlow-Stewart K.
        • Kirk J.A.
        • et al.
        Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling?.
        Genet Med. 2011; 13: 933-941
        • Supreme Court of the United States
        Syllabus Association for molecular pathology et al. v. Myriad Genetics, Inc., et al.
        (Accessed 10/5/15)
        • Griffiths A.J.F.M.J.
        • Suzuki D.T.
        • et al.
        An Introduction to Genetic Analysis.
        7th ed. W.H. Freeman, New York2000
      2. De, S. Somatic mosaicism in healthy human tissues. Trends Genet., Volume 27(6):217–223.

        • NCCN
        Clinical practice guidelines in Oncology (NCCN Guidelines®) genetic/familial high-risk assessment: breast and ovarian. version 2.2017 — December 7, 2016.
        • LaDuca H.
        • Stuenkel A.J.
        • Dolinsky J.S.
        • Keiles S.
        • Tandy S.
        • Pesaran T.
        • et al.
        Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
        Genet. Med. 2014; 16: 830-837
        • Tung N.
        • Battelli C.
        • Allen B.
        • Kaldate R.
        • Bhatnagar S.
        • Bowles K.
        • et al.
        Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
        Cancer. 2015; 121: 25-33
        • LaDuca H.
        • Stuenkel A.J.
        • Dolinsky J.S.
        • Keiles S.
        • Tandy S.
        • Pesaran T.
        • Chen E.
        • Gau C.L.
        • Palmaer E.
        • Shoaepour K.
        • Shah D.
        • Speare V.
        • Gandomi S.
        • Chao E.
        Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
        Genet Med. 2014 Nov; 16: 830-837
        • Tung N.
        • Battelli C.
        • Allen B.
        • Kaldate R.
        • Bhatnagar S.
        • Bowles K.
        • Timms K.
        • Garber J.E.
        • Herold C.
        • Ellisen L.
        • Krejdovsky J.
        • DeLeonardis K.
        • Sedgwick K.
        • Soltis K.
        • Roa B.
        • Wenstrup R.J.
        • Hartman A.R.
        Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
        Cancer. 2015 Jan 1; 121: 25-33
        • Berglund E.C.
        • Kiialainen A.
        • Syvanen A.C.
        Next-generation sequencing technologies and applications for human genetic history and forensics.
        Investig. Genet. 2011; 2: 23
        • Walsh C.S.
        Two decades beyond BRCA1/2: homologous recombination, hereditary cancer risk and a target for ovarian cancer therapy.
        Gynecol. Oncol. 2015 May; 137: 343-350
        • Food and Drug Administration
        DHHS, letter to Committee on Health, Education, Labor and Pensions Chairman Tom Harkins.
        • Food and Drug Administration
        Laboratory developed tests.
        • van Oostrom I.
        • Meijers-Heijboer H.
        • Lodder L.N.
        • Duivenvoorden H.J.
        • van Gool A.R.
        • Seynaeve C.
        • et al.
        Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study.
        J. Clin. Oncol. 2003; 21: 3867-3874
        • Schwartz M.D.
        • Peshkin B.N.
        • Hughes C.
        • Main D.
        • Isaacs C.
        • Lerman C.
        Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample.
        J. Clin. Oncol. 2002; 20: 514-520
        • Reichelt J.G.
        • Moller P.
        • Heimdal K.
        • Dahl A.A.
        Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer.
        Familial Cancer. 2008; 7: 245-254
        • Heshka J.T.
        • Palleschi C.
        • Howley H.
        • Wilson B.
        • Wells P.S.
        A systematic review of perceived risks, psychological and behavioral impacts of genetic testing.
        Genet Med. 2008; 10: 19-32
        • Hamilton J.G.
        • Lobel M.
        • Moyer A.
        Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review.
        Health Psychol. 2009; 28: 510-518
        • Manchanda R.
        • Loggenberg K.
        • Sanderson S.
        • Burnell M.
        • Wardle J.
        • Gessler S.
        • et al.
        Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
        J. Natl. Cancer Inst. 2015; 107: 379