Physicians' perspectives on receiving unsolicited genomic results.
Attitudes
Ethics
Physicians
Return of research results
Unsolicited genomic results
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
19
01
2018
accepted:
09
04
2018
pubmed:
16
6
2018
medline:
19
4
2019
entrez:
16
6
2018
Statut:
ppublish
Résumé
Physicians increasingly receive genomic test results they did not order, which we term "unsolicited genomic results" (UGRs). We asked physicians how they think such results will affect them and their patients. Semistructured interviews were conducted with adult and pediatric primary care and subspecialty physicians at four sites affiliated with a large-scale return-of-results project led by the Electronic Medical Records and Genomics (eMERGE) Network. Twenty-five physicians addressed UGRs and (1) perceived need for actionability, (2) impact on patients, (3) health care workflow, (4) return of results process, and (5) responsibility for results. Physicians prioritize actionability of UGRs and the need for clear, evidence-based "paths" for action coupled with clinical decision support (CDS). They identified potential harms to patients including anxiety, false reassurance, and clinical disutility. Clinicians worried about anticipated workflow issues including responding to UGRs and unreimbursed time. They disagreed about who was responsible for responding to UGRs. The prospect of receiving UGRs for otherwise healthy patients raises important concerns for physicians. Their responses informed development of an in-depth survey for physicians following return of UGRs. Strategic workflow integration of UGRs will likely be necessary to empower physicians to serve their patients effectively.
Identifiants
pubmed: 29904163
doi: 10.1038/s41436-018-0047-z
pii: S1098-3600(21)04614-1
pmc: PMC6294706
mid: NIHMS961138
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
311-318Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG008666
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008672
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008679
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008701
Pays : United States
Références
Green RC, Berg JS, Grody WW, et al. CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2017;19:606.
doi: 10.1038/gim.2017.18
pubmed: 28492529
Fossey R, Kochan D, Winkler E, et al. Ethical considerations related to return of results from genomic medicine projects: the eMERGE Network (Phase III) experience. J Pers Med. 2018;8(1):2.
doi: 10.3390/jpm8010002
Kolor K, Duquette D, Zlot A, et al. Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genet Med. 2012;14:860–7.
doi: 10.1038/gim.2012.67
McGowan ML, Fishman JR, Settersten RA Jr., Lambrix MA, Juengst ET. Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing. PLoS ONE. 2014;9:e108484. https://doi.org/10.1371/journal.pone.0108484
doi: 10.1371/journal.pone.0108484
pubmed: 25259512
pmcid: 4178171
van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT 4th, Roberts JS, Green RC; Impact of Personal Genomics Study Group. Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann Intern Med. 2016;164:513–22.
doi: 10.7326/M15-0995
pubmed: 26928821
Jarvik GP, Amendola LM, Berg JS, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014;94:818–26.
doi: 10.1016/j.ajhg.2014.04.009
Husedzinovic A, Ose D, Schickhardt C, et al. Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature. Eur J Hum Genet. 2015;23:1607–14.
doi: 10.1038/ejhg.2015.27
pubmed: 25735479
pmcid: 4795193
Wolf SM, Crock BN, Van Ness B, et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med. 2012;14:361–84.
doi: 10.1038/gim.2012.23
pubmed: 3597341
pmcid: 3597341
Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM. “I want to know what’s in Pandora’s box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A. 2012;158A:2519–25.
doi: 10.1002/ajmg.a.35554
pubmed: 22903777
Raghavan S, Vassy JL. Do physicians think genomic medicine will be useful for patient care? Per Med. 2014;11:424–33.
doi: 10.2217/pme.14.25
pubmed: 26161114
pmcid: 4494677
Mikat-Stevens NA, Larson IA, Tarini BA. Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature. Genet Med. 2015;17:169–76.
doi: 10.1038/gim.2014.101
Christensen KD, Vassy JL, Jamal L, et al. Are physicians prepared for whole genome sequencing? a qualitative analysis. Clin Genet. 2016;89:228–34.
doi: 10.1111/cge.12626
Unertl KM, Field JR, Price L, et al. Clinician perspectives on using pharmacogenomics in clinical practice. Pers Med. 2015;12:339–47.
doi: 10.2217/pme.15.10
Peterson JF, Field JR, Shi Y, et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharm J. 2016;16:393–8.
Larson EA, Wilke RA. Integration of genomics in primary care. Am J Med. 2015;128:1251.e1251–55.
doi: 10.1016/j.amjmed.2015.05.011
Gottesman O1, Kuivaniemi H, Tromp G, et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med. 2013;15:761–71.
doi: 10.1038/gim.2013.72
Pope C, Ziebland S, Mays N. Qualitative research in health care. Analyzing qualitative data. BMJ. 2000;320:114–6.
doi: 10.1136/bmj.320.7227.114
Gwet K. in Handbook of Inter-Rater Reliability: The Definitive Guide to Measuring the Extent of Agreement Among Raters. 3rd ed. 124 (Advanced Analytics, 2012).
Bollinger JM, Scott J, Dvoskin R, et al. Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genet Med. 2012;14:451–7.
doi: 10.1038/gim.2011.66
pubmed: 22402755
pmcid: 3927946
Klitzman R, Appelbaum PS, Fyer A, et al. Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med. 2013;15:888–95.
doi: 10.1038/gim.2013.87
pubmed: 23807616
Tabor HK, Berkman BE, Hull SC, et al. Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A. 2011;155A:2916–24.
doi: 10.1002/ajmg.a.34357
pubmed: 22038764
pmcid: 4819320
Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet. 2013;14:557–77.
doi: 10.1146/annurev-genom-091212-153506
pubmed: 23875796
pmcid: 4452115
Bookman EB, Langehorne AA, Eckfeldt JH, et al. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A. 2006;140:1033–40. https://doi.org/10.1002/ajmg.a.31195
doi: 10.1002/ajmg.a.31195
pubmed: 16575896
pmcid: 2556074
Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009;19:1665–74.
doi: 10.1101/gr.092841.109
pubmed: 2752125
pmcid: 2752125
Green RC, Goddard KAB, Jarvik GP, et al. Clinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet. 2016;99:246.
doi: 10.1016/j.ajhg.2016.06.002
pubmed: 27392080
pmcid: 5005464
Electronic Medical Records and Genomics (eMERGE) Network. 2018. https://www.genome.gov/27540473/electronic-medical-records-and-genomics-emerge-network/ . Accessed 13 June 2018.
Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, N. The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. 2015. https://acd.od.nih.gov/documents/reports/PMI_WG_report_2015-09-17-Final.pdf . Accessed 6 June 2018.
Gollust SE, Gray SW, Carere DA, et al. Consumer Perspectives on Access to Direct-to-Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience, Milbank Q. 2017 Jun;95(2):291-318. https://doi.org/10.1111/1468-0009.12262 .
doi: 10.1111/1468-0009.12262
Burke W, Antommaria AH, Bennett R, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013;15:854–9.
doi: 10.1038/gim.2013.113
Middleton A, Morley KI, Bragin E, et al. No expectation to share incidental findings in genomic research. Lancet. 2015;385(9975):1289–90.
doi: 10.1016/S0140-6736(14)62119-X
pubmed: 25529584
Vassy JL, Christensen KD, Slashinski MJ, et al. ‘Someday it will be the norm’: physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. Pers Med. 2015;12:23–32.
doi: 10.2217/pme.14.68
Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet. 2013;14:557–77.
doi: 10.1146/annurev-genom-091212-153506
Lazaro-Munoz G, Conley JM, Davis AM, et al. Which results to return: subjective judgments in selecting medically actionable genes. Genet Test Mol Biomarkers . 2017;21:184–94.
doi: 10.1089/gtmb.2016.0397
Broady KM, Ormond KE, Topol EJ, et al. Predictors of adverse psychological experiences surrounding genome-wide profiling for disease risk. J Community Genet. 2017. https://doi.org/10.1007/s12687-017-0339-z
doi: 10.1007/s12687-017-0339-z
pubmed: 29130150
pmcid: 6002310
Christensen KD, Roberts JS, Royal CD, et al. Incorporating ethnicity into genetic risk assessment for Alzheimer disease: the REVEAL study experience. Genet Med. 2008;10:207–14.
doi: 10.1097/GIM.0b013e318164e4cf
pubmed: 18344711
pmcid: 18344711
Vassy JL, Christensen KD, Schonman EF, et al. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med . 2017;385(9975):1289-90.
doi: 10.7326/M17-0188
pubmed: 28654958
pmcid: 5856654
Bloss CS, Schork NJ, Topol EJ. Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation. J Med Genet. 2014;51:83–89.
doi: 10.1136/jmedgenet-2013-101909
pubmed: 24343916
Genetic Information Nondiscrimination Act. 42 USC §§ 2000ff et seq. 122Stat. 881. 2008.
Patient Protection and Affordable Care Act. 42 USC §§ 18001 et seq. 2010.
Clayton EW, McGuire AL. The legal risks of returning results of genomics research. Genet Med. 2012;14:473–7.
doi: 10.1038/gim.2012.10
pubmed: 22323070
pmcid: 3779603