Incidental Findings ~ Patient / Public Education / Opinion / Preference
~ Genetics of Breast & Ovarian Cancer

Preferences for return of incidental findings or research results

List was last updated on Oct 13, 2020 @ 7:30 pm.


    • Ethical challenges of precision cancer medicine.
    • Winkler EC, Knoppers BM.
    • Semin Cancer Biol. 2020 Oct 9:S1044-579X(20)30201-7. doi: 10.1016/j.semcancer.2020.09.009. Epub ahead of print.
    • Review
    • Impact of Numeracy Preferences on Information Needs for Genome Sequencing Results.
    • Albrechtsen RD, Goodman MS, Bathar J, Kaphingst KA.
    • Patient Educ Couns. 2020 Sep 25:S0738-3991(20)305309. doi: 10.1016/j.pec.2020.09.032. Epub ahead of print.
    • Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
    • Schneider BP, Stout LA, Philips S, Schroeder C, Scott SF, Hunter C, Kassem N, Kiel PJ, Radovich M.
    • JCO Precis Oncol. 2020;4:1109. doi: 10.1200/PO.19.00354. Epub 2020 Sep 21.
    • Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
    • Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS.
    • Am J Hum Genet. 2020 Aug 14:S0002-9297(20)30269-X. doi: 10.1016/j.ajhg.2020.08.001. Epub ahead of print.
    • Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
    • Horiuchi Y, Matsubayashi H, Kiyozumi Y, Nishimura S, Higashigawa S, Kado N, Nagashima T, Mizuguchi M, Ohnami S, Arai M, Urakami K, Kusuhara M, Yamaguchi K.
    • Hum Genet. 2020 Jul 24. doi: 10.1007/s00439-020-02207-6. Epub ahead of print.
    • Differences in cancer patients’ and clinicians’ preferences for disclosure of uncertain genomic tumor testing results.
    • Fenton AT, Anderson EC, Scharnetzki E, Reed K, Edelman E, Antov A, Rueter J, Han PKJ, MCGI Working Group.
    • Patient Educ Couns. 2020 Jul 15:S0738-3991(20)303839. doi: 10.1016/j.pec.2020.07.010. Epub ahead of print.
    • A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results.
    • Scherr CL, Ross Arguedas AA, Getachew-Smith H, Marshall-Fricker C, Shrestha N, Brooks K, Fischhoff B, Vadaparampil ST.
    • Med Decis Making. 2020 Jul;40(5):655-668. doi: 10.1177/0272989X20935864.
    • Frequency of genomic secondary findings among 21,915 eMERGE network participants.
    • eMERGE Clinical Annotation Working Group.
    • Genet Med. 2020 Jun 17. doi: 10.1038/s41436-020-0810-9. Epub ahead of print.
    • Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland.
    • Stefansdottir V, Thorolfsdottir E, Hognason HB, Patch C, van El C, Hentze S, Cordier C, Mendes Á, Jonsson JJ.
    • Eur J Hum Genet. 2020 Jun 10. doi: 10.1038/s41431-020-0665-1. Epub ahead of print.
    • Establishing a framework for the clinical translation of germline findings in precision oncology.
    • Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA.
    • JNCI Cancer Spectr. 2020 May 29; pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 May.
    • Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).
    • Henderson GE, Ewing M, Kuczynski KJ, Cadigan RJ, Waltz M, Butterfield RM, Rini C, Weck K, Berg JS, Edwards TP.
    • Eur J Hum Genet. 2020 May 26. doi: 10.1038/s41431-020-0657-1. Epub ahead of print.
    • Q&A: ACMG Work Group Hoping to Spark Discussion on Reporting Germline Findings From Tumor Testing.
    • Ray T.
    • Precision Oncology News. 2020 May 21.
    • News

    Guidelines:

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

    • Pediatric Reporting of Genomic Results Study (PROGRESS): A Mixed-Methods, Longitudinal, Observational Cohort Study Protocol to Explore Disclosure of Actionable Adult- And Pediatric-Onset Genomic Variants to Minors and Their Parents.
    • Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH.
    • BMC Pediatr. 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4.
    • Patient perspectives on variant reclassification after cancer susceptibility testing.
    • Halverson CME, Connors LM, Wessinger BC, Clayton EW, Wiesner GL.
    • Mol Genet Genomic Med. 2020 Apr 24:e1275. doi: 10.1002/mgg3.1275. [Epub ahead of print]
    • Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
    • Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee.
    • Genet Med. 2020 Apr 23. doi: 10.1038/s41436-020-0783-8. Epub ahead of print.

    News, Interview: Q&A: ACMG Work Group Hoping to Spark Discussion on Reporting Germline Findings From Tumor Testing. (Precision Oncology News)

    • Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.
    • Torrorey-Sawe R, van der Merwe N, Mining SK, Kotze MJ.
    • Front Genet. 2020 Mar 6;11:170. doi: 10.3389/fgene.2020.00170. eCollection 2020.
    • Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
    • Chirita-Emandi A, Andreescu N, Zimbru CG, Tutac P, Arghirescu S, Serban M, Puiu M.
    • Sci Rep. 2020 Jan 14;10(1):223. doi: 10.1038/s41598-019-57080-9.
    • Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
    • Ross LF, Clayton EW.
    • Pediatrics. 2019 Nov 12. pii: e20191031. doi: 10.1542/peds.2019-1031. [Epub ahead of print]

    Press: Genome Sequencing in Newborns Raises Ethical Issues (NY Times/Reuters)

    • Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
    • Shickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team.
    • BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092.
    • Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
    • Gaieski JB, Patrick-Miller L, Egleston BL, Maxwell KN, Walser S, DiGiovanni L, Brower J, Fetzer D, Ganzak A, McKenna D, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM, Bradbury AR.
    • Mol Genet Genomic Med. 2019 Aug 3:e898. doi: 10.1002/mgg3.898. [Epub ahead of print]
    • Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
    • Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.
    • J Med Genet. 2019 Apr 24. pii: jmedgenet-2018-105820. doi: 10.1136/jmedgenet-2018-105820. [Epub ahead of print]
    • Guidelines
    • Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views.
    • Medendorp NM, Hillen MA, Murugesu L, Aalfs CM, Stiggelbout AM, Smets EMA.
    • J Community Genet. 2019 Apr;10(2):303-312. doi: 10.1007/s12687-018-0393-1. Epub 2018 Nov 14.
    • Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.
    • Matsen CB, Lyons S, Goodman MS, Biesecker BB, Kaphingst KA.
    • Patient Educ Couns. 2019 Jan;102(1):155-161. doi: 10.1016/j.pec.2018.08.004. Epub 2018 Aug 4.
    • Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.
    • Pujol P, Vande Perre P, Faivre L, Sanlaville D, Corsini C, Baertschi B, Anahory M, Vaur D, Olschwang S, Soufir N, Bastide N, Amar S, Vintraud M, Ingster O, Richard S, Le Coz P, Spano JP, Caron O, Hammel P, Luporsi E, Toledano A, Rebillard X, Cambon-Thomsen A, Putois O, Rey JM, Hervé C, Zorn C, Baudry K, Galibert V, Gligorov J, Azria D, Bressac-de Paillerets B, Burnichon N, Spielmann M, Zarca D, Coupier I, Cussenot O, Gimenez-Roqueplo AP, Giraud S, Lapointe AS, Niccoli P, Raingeard I, Le Bidan M, Frebourg T, Rafii A, Geneviève D.
    • Eur J Hum Genet. 2018 Dec;26(12):1732-1742. doi: 10.1038/s41431-018-0224-1. Epub 2018 Aug 8.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • Acceptability of Electronic Visits for Return of Research Results in the Mayo Clinic Biobank.
    • Olson JE, Ryu E, Lyke KJ, Bielinski SJ, Winkler EM, Hathcock MA, Bublitz JT, Takahashi PY, Cerhan JR.
    • Mayo Clin Proc Innov Qual Outcomes. 2018 Sep 15;2(4):352-358. doi: 10.1016/j.mayocpiqo.2018.07.004. eCollection 2018 Dec.
    • Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk.
    • Willis AM, Smith SK, Meiser B, Ballinger ML, Thomas DM, Tattersall M; International Sarcoma Kindred Study (ISKS); Kathleen Cuningham National Consortium for Research into Familial Breast Cancer (kConFab), Young MA.
    • J Genet Couns. 2018 Sep;27(5):1055-1066. doi: 10.1007/s10897-018-0223-y. Epub 2018 Feb 17.
    • Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.
    • Nilsson MP, Emmertz M, Kristoffersson U, Borg Å, Larsson C, Rehn M, Winter C, Saal LH, Brandberg Y, Loman N.
    • J Community Genet. 2018 Jul;9(3):201-208. doi: 10.1007/s12687-017-0341-5. Epub 2017 Oct 30.
    • Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.
    • Bradbury AR, Patrick-Miller L, Egleston BL, Maxwell KN, DiGiovanni L, Brower J, Fetzer D, Bennett Gaieski J, Brandt A, McKenna D, Long J, Powers J, Stopfer JE, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/po.17.00250. Epub 2018 Apr 16.
    • Managing unsolicited findings in genomics: a qualitative interview study with cancer patients.
    • Bijlsma RM, Wouters RHP, Wessels H, May AM, Ausems MGEM, Voest EE, Bredenoord AL.
    • Psychooncology. 2018 Apr;27(4):1327-1333. doi: 10.1002/pon.4676. Epub 2018 Mar 24.
    • The Right Not to Know: When Ignorance Is Bliss but Deadly.
    • Clausen AM.
    • Global Health NOW. 2018 Mar 20.

    Commentary: The right not to know when not knowing is dangerous. (FORCE. XRAYS.)

    • Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach.
    • Moss HA, Samimi G, Havrilesky LJ, Sherman ME, Myers ER.
    • Genet Epidemiol. 2018 Feb;42(1):117-122. doi: 10.1002/gepi.22095. Epub 2017 Nov 30.
    • Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.
    • Kaphingst KA, Ivanovich J, Lyons S, Biesecker B, Dresser R, Elrick A, Matsen C, Goodman M.
    • Transl Behav Med. 2018 Jan 29;8(1):71-79. doi: 10.1093/tbm/ibx042.
    • Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling.
    • Hamilton JG, Shuk E, Genoff MC, Rodríguez VM, Hay JL, Offit K, Robson ME.
    • J Oncol Pract. 2017 Jul;13(7):e590-e601. doi: 10.1200/JOP.2016.020057. Epub 2017 Jun 19.

    Medscape-style free full text: Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling. (Medscape)

    • Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age.
    • Seo J, Ivanovich J, Goodman MS, Biesecker BB, Kaphingst KA.
    • J Genet Couns. 2017 Jun;26(3):511-521. doi: 10.1007/s10897-016-0006-2. Epub 2016 Aug 20.
    • Communicating BRCA research results to patients enrolled in international clinical trials: lessons learnt from the AGO-OVAR 16 study.
    • Pulford DJ, Harter P, Floquet A, Barrett C, Suh DH, Friedlander M, Arranz JA, Hasegawa K, Tada H, Vuylsteke P, Mirza MR, Donadello N, Scambia G, Johnson T, Cox C, Chan JK, Imhof M, Herzog TJ, Calvert P, Wimberger P, Berton-Rigaud D, Lim MC, Elser G, Xu CF, du Bois A.
    • BMC Med Ethics. 2016 Oct 21;17(1):63.
    • How Patients Can Share Their Data.
    • [No author given]
    • My Gene Counsel. 2016 Oct 7.
    • Disclosure of research results: a randomized study on GENEPSO-PS cohort participants.
    • Mancini J, Le Cozannet E, Bouhnik AD, Resseguier N, Lasset C, Mouret-Fourme E, Noguès C, Julian-Reynier C.
    • Health Expect. 2016 Oct;19(5):1023-35. doi: 10.1111/hex.12390. Epub 2015 Jul 23.
    • Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
    • Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.
    • Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.
    • Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
    • Kaphingst KA, Ivanovich J, Biesecker BB, Dresser R, Seo J, Dressler LG, Goodfellow PJ, Goodman MS.
    • Clin Genet. 2016 Mar;89(3):378-84. doi: 10.1111/cge.12597. Epub 2015 May 5.
    • Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.
    • Ngeow J, Eng C.
    • NPJ Genom Med. 2016 Jan 13;1:15006. doi: 10.1038/npjgenmed.2015.6. eCollection 2016.
    • "Maybe they have found something new" participants' views on returning cohort psychosocial survey results.
    • Bureau E, Pellegrini I, Noguès C, Lasset C, Julian-Reynier C.
    • Health Expect. 2015 Dec;18(6):2425-36. doi: 10.1111/hex.12211. Epub 2014 May 30.
    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
    • Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.
    • Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.
    • The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study.
    • Australian Ovarian Cancer Study Group, Hallowell N, Alsop K, Gleeson M, Crook A, Plunkett L, Bowtell D, Mitchell G, Young MA.
    • Genet Med. 2013 Jun;15(6):458-65. doi: 10.1038/gim.2012.154. Epub 2013 Feb 28.
    • Grace Rock's consent.
    • Ross TS.
    • Endocr Relat Cancer. 2012 Jul 22;19(4):C29-31. doi: 10.1530/ERC-12-0186. Print 2012 Aug.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed