Dataset Information

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

ABSTRACT: PURPOSE:Clinical sequencing emerging in health care may result in secondary findings (SFs). METHODS:Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene-condition pair list; we assessed clinical and psychosocial actions. RESULTS:The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0-$678) and $421 (recommended, range: $141-$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene-condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care. CONCLUSION:Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.

SUBMITTER: Hart MR

PROVIDER: S-EPMC6450774 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart M Ragan MR Biesecker Barbara B BB Blout Carrie L CL Christensen Kurt D KD Amendola Laura M LM Bergstrom Katie L KL Biswas Sawona S Bowling Kevin M KM Brothers Kyle B KB Conlin Laura K LK Cooper Greg M GM Dulik Matthew C MC East Kelly M KM Everett Jessica N JN Finnila Candice R CR Ghazani Arezou A AA Gilmore Marian J MJ Goddard Katrina A B KAB Jarvik Gail P GP Johnston Jennifer J JJ Kauffman Tia L TL Kelley Whitley V WV Krier Joel B JB Lewis Katie L KL McGuire Amy L AL McMullen Carmit C Ou Jeffrey J Plon Sharon E SE Rehm Heidi L HL Richards C Sue CS Romasko Edward J EJ Miren Sagardia Ane A Spinner Nancy B NB Thompson Michelle L ML Turbitt Erin E Vassy Jason L JL Wilfond Benjamin S BS Veenstra David L DL Berg Jonathan S JS Green Robert C RC Biesecker Leslie G LG Hindorff Lucia A LA

Genetics in medicine : official journal of the American College of Medical Genetics 20181005 5

<h4>Purpose</h4>Clinical sequencing emerging in health care may result in secondary findings (SFs).<h4>Methods</h4>Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene-condition pair list; we assessed clinical and psychosocial actions.<h4>Results</h4>The overall adjusted prevalen ...[more]

PMID: 30287922

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Project description:BACKGROUND:Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a patient facing FHH assessment tool, MeTree. In this paper we report the content and quality of the FHH collected using MeTree. METHODS: DESIGN:A hybrid implementation-effectiveness study. Patients were recruited from 2009 to 2012. SETTING:Two community primary care clinics in Greensboro, NC. PARTICIPANTS:All non-adopted adult English speaking patients with upcoming appointments were invited to participate. INTERVENTION:Education about and collection of FHH with entry into MeTree. MEASURES:We report the proportion of pedigrees that were high-quality. High-quality pedigrees are defined as having all the following criteria: (1) three generations of relatives, (2) relatives' lineage, (3) relatives' gender, (4) an up-to-date FHH, (5) pertinent negatives noted, (6) age of disease onset in affected relatives, and for deceased relatives, (7) the age and (8) cause of death (Prim Care31:479-495, 2004.). RESULTS:Enrollment: 1,184. Participant demographics: age range 18-92 (mean 58.8, SD 11.79), 56% male, and 75% white. The median pedigree size was 21 (range 8-71) and the FHH entered into MeTree resulted in a database of 27,406 individuals. FHHs collected by MeTree were found to be high quality in 99.8% (N = 1,182/1,184) as compared to <4% at baseline. An average of 1.9 relatives per pedigree (range 0-50, SD 4.14) had no data reported. For pedigrees where at least one relative has no data (N = 497/1,184), 4.97 relatives per pedigree (range 1-50, SD 5.44) had no data. Talking with family members before using MeTree significantly decreased the proportion of relatives with no data reported (4.98% if you talked to your relative vs. 10.85% if you did not, p-value < 0.001.). CONCLUSION:Using MeTree improves the quantity and quality of the FHH data that is collected and talking with relatives prior to the collection of FHH significantly improves the quantity and quality of the data provided. This allows more patients to be accurately risk stratified and offered appropriate preventive care guided by their risk level. TRIAL NUMBER:NCT01372553.

Project description:OBJECTIVES:As shared decision making (SDM) has received increased attention as a method to improve the patient-centeredness of emergency department (ED) care, we sought to determine patients' desired level of involvement in medical decisions and their perceptions of potential barriers and facilitators to SDM in the ED. METHODS:We surveyed a cross-sectional sample of adult ED patients at three academic medical centers across the United States. The survey included 32 items regarding patient involvement in medical decisions including a modified Control Preference Scale and questions about barriers and facilitators to SDM in the ED. Items were developed and refined based on prior literature and qualitative interviews with ED patients. Research assistants administered the survey in person. RESULTS:Of 797 patients approached, 661 (83%) agreed to participate. Participants were 52% female, 45% white, and 30% Hispanic. The majority of respondents (85%-92%, depending on decision type) expressed a desire for some degree of involvement in decision making in the ED, while 8% to 15% preferred to leave decision making to their physician alone. Ninety-eight percent wanted to be involved with decisions when "something serious is going on." The majority of patients (94%) indicated that self-efficacy was not a barrier to SDM in the ED. However, most patients (55%) reported a tendency to defer to the physician's decision making during an ED visit, with about half reporting they would wait for a physician to ask them to be involved. CONCLUSION:We found that the majority of ED patients in our large, diverse sample wanted to be involved in medical decisions, especially in the case of a "serious" medical problem, and felt that they had the ability to do so. Nevertheless, many patients were unlikely to actively seek involvement and defaulted to allowing the physician to make decisions during the ED visit. After fully explaining the consequences of a decision, clinicians should make an effort to explicitly ascertain patients' desired level of involvement in decision making.

Dataset Information

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Publications

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

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