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 Nov 18, 2019 @ 10:32 am.


    • 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.
    • 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