Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Bombard, Yvonne; Clausen, Marc; Shickh, Salma; Mighton, Chloe; Casalino, Selina; Kim, Theresa H. M.; Muir, Sarah M.; Carlsson, Lindsay; Baxter, Nancy N.; Scheer, Adena; Elser, Christine; Eisen, Andrea; Panchal, Seema; Graham, Tracy; Aronson, Melyssa; Piccinin, Carolyn; Mancuso, T.; Semotiuk, Kara; Evans, Matt; Carroll, June C.; Offit, Kenneth; Robson, Mark E.; Hamilton, Jada G.; Glogowski, Emily; Schrader, Kasmintan A.; Kim, Raymond H.; Lerner‐Ellis, Jordan; Thorpe, Kevin E.; Laupacis, Andreas

doi:10.1038/s41436-019-0702-z

Cited by 35 publications

(56 citation statements)

References 35 publications

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“…A first step would be to develop a consensus list of secondary findings of pharmacogenes to avoid disparities in what information is offered or reported between laboratories (Bombard et al, 2020;Reble et al, 2021). Then, clinical PGx testing labs that include genes in their test panels with secondary findings could offer patients the option of receiving a separate report on secondary findings (Brothers et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Revisiting Secondary Information Related to Pharmacogenetic Testing

Haga

2021

Front. Genet.

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Incidental or secondary findings have been a major part of the discussion of genomic medicine research and clinical applications. For pharmacogenetic (PGx) testing, secondary findings arise due to the pleiotropic effects of pharmacogenes, often related to their endogenous functions. Unlike the guidelines that have been developed for whole exome or genome sequencing applications for management of secondary findings (though slightly different from PGx testing in that these refer to detection of variants in multiple genes, some with clinical significance and actionability), no corresponding guidelines have been developed for PGx clinical laboratories. Nonetheless, patient and provider education will remain key components of any PGx testing program to minimize adverse responses related to secondary findings.

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Section: Discussionmentioning

confidence: 99%

Revisiting Secondary Information Related to Pharmacogenetic Testing

Haga

2021

Front. Genet.

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“…This was a qualitative study nested within a randomized control trial (RCT) of the effectiveness of a decision aid ( www.GenomicsADvISER.com ) for the selection of SF from GS. The RCT protocol and results are described elsewhere [ 20 , 21 ]. All participants were patients with a personal cancer history or family history of a suspected hereditary cancer syndrome.…”

Section: Methodsmentioning

confidence: 99%

Quality of life drives patients’ preferences for secondary findings from genomic sequencing

et al. 2020

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There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients’ preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF. Semi-structured interviews were conducted with adults with a personal or family cancer history participating in a trial of a decision aid for selection of SF from genomic sequencing (GS) ( www.GenomicsADvISER.com ). Interviews were analyzed thematically using constant comparison. Preserving health-related and non-health-related quality of life was an overarching motivator for both learning and not learning SF. Some participants perceived that learning SF would help them “have a good quality of life” through informing actions to maintain physical health or leading to psychological benefits such as emotional preparation for disease. Other participants preferred not to learn SF because results “could ruin your quality of life,” such as by causing negative psychological impacts. Measuring health-related and non-health-related quality of life may capture outcomes related to clinical and personal utility of GS and SF, which have previously been challenging to measure. Without appropriate measures, generating and synthesizing evidence to evaluate genomic technologies such as GS will continue to be a challenge, and will undervalue potential benefits of GS and SF.

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“…Incorporating technology into the delivery of pre-or posttest genetic counseling has also been explored as an approach to scale genetic counseling practice. In the pretest setting, studies have developed web-based education platforms (70) and evaluated online decision aid tools (5,16) to support informed decision-making. An exploration of patient experiences incorporating chatbot technology into consent, posttest counseling, and facilitation of family testing identified support for this model (81).…”

Section: Exploring Alternative Service Delivery Modelsmentioning

confidence: 99%

Scaling Genetic Counseling in the Genomics Era

Amendola

Golden‐Grant

Scollon

2021

Annu. Rev. Genom. Hum. Genet.

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The development of massively parallel sequencing–based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Cited by 35 publications

References 35 publications

Revisiting Secondary Information Related to Pharmacogenetic Testing

Revisiting Secondary Information Related to Pharmacogenetic Testing

Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Scaling Genetic Counseling in the Genomics Era

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