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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Publications

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:BackgroundDespite the rapid uptake of genomic technologies within cancer care, few studies provide detailed information on the costs of sequencing across different applications. The objective of the study was to examine and categorise the complete costs involved in genomic sequencing for a range of applications within cancer settings.MethodsWe performed a cost-analysis using gross and micro-costing approaches for genomic sequencing performed during 2017/2018 across different settings in Brisbane, Australia. Sequencing was undertaken for patients with lung, breast, oesophageal cancers, melanoma or mesothelioma. Aggregated resource data were captured for a total of 1433 patients and point estimates of per patient costs were generated. Deterministic sensitivity analyses addressed the uncertainty in the estimates. Estimated costs to the public health system for resources were categorised into seven distinct activities in the sequencing process: sampling, extraction, library preparation, sequencing, analysis, data storage and clinical reporting. Costs were also aggregated according to labour, consumables, testing, equipment and 'other' categories.ResultsThe per person costs were AU$347-429 (2018 US$240-297) for targeted panels, AU$871-$2788 (2018 US$604-1932) for exome sequencing, and AU$2895-4830 (2018 US$2006-3347) for whole genome sequencing. Cost proportions were highest for library preparation/sequencing materials (average 76.8% of total costs), sample extraction (8.1%), data analysis (9.2%) and data storage (2.6%). Capital costs for the sequencers were an additional AU$34-197 (2018 US$24-67) per person.ConclusionsTotal costs were most sensitive to consumables and sequencing activities driven by commercial prices. Per person sequencing costs for cancer are high when tumour/blood pairs require testing. Using the natural steps involved in sequencing and categorising resources accordingly, future evaluations of costs or cost-effectiveness of clinical genomics across cancer projects could be more standardised and facilitate easier comparison of cost drivers.

Dataset Information

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

Purpose

Methods

Results

Conclusion

Publications

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

Similar Datasets

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