Utilization of Genetic Counseling after Direct‐to‐Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

Koeller, Diane R.; Uhlmann, Wendy R.; Carere, Deanna Alexis; Green, Robert C; Roberts, J. Scott

doi:10.1007/s10897-017-0106-7

Cited by 41 publications

(61 citation statements)

References 41 publications

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“…76, 87 Study findings on the percentage of adult consumers who seek genetic counseling following direct-to-consumer genetic testing range from 1–14%. 88 However it is unclear how true any of these findings will be for children, and studies have not yet examined parental motivations for using DTC or the downstream health system implications of parents accessing these services. 76, 88, 89 …”

Section: Clinicians Should Counsel Parents Against Direct-to-consumermentioning

confidence: 99%

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Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Johnston¹,

Lantos²,

Goldenberg³

et al. 2018

Hastings Center Report

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Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self-directed preventive actions tailored to each child's genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one's own or one's child's future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered. In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct-to-consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole-exome or whole-genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed. In a symptomatic newborn, targeted or genome-wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant's symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome-wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome-wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context.

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Section: Clinicians Should Counsel Parents Against Direct-to-consumermentioning

confidence: 99%

“…88 However it is unclear how true any of these findings will be for children, and studies have not yet examined parental motivations for using DTC or the downstream health system implications of parents accessing these services. 76, 88, 89 …”

Section: Clinicians Should Counsel Parents Against Direct-to-consumermentioning

confidence: 99%

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Johnston¹,

Lantos²,

Goldenberg³

et al. 2018

Hastings Center Report

View full text Add to dashboard Cite

show abstract

“…An analysis of data based on 2012 surveys of 1026 customers of DTCGT companies 23andMe in Mountain View, California, and Pathway Genomics in San Diego, California, revealed that 4% of these customers scheduled or planned to schedule an appointment with a genetic counselor. However, 38% indicated that they would have spoken to a genetic counselor had the DTCGT company made one available, and 27% reported having discussed results with a PCP (Koeller et al, 2017).…”

Section: More Consumers Discuss Results With Primary Care Physiciansmentioning

confidence: 99%

In this issue

2017

American J of Med Genetics Pt A

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“…Online DTC genetic tests are generally delivered in the absence of genetic counseling or medical oversight. Some consumers with DTC test results are now looking to general practitioners or clinical genetic services for assistance with interpretation or management of DTC genetic findings, posing an emerging challenge for the medical community ( 6 , 7 ).…”

Section: Introductionmentioning

confidence: 99%

Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions

Tiller

Lacaze

2018

Front. Public Health

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The Internet currently enables unprecedented ease of access for direct-to-consumer (DTC) genetic testing, with saliva collection kits posted directly to consumer homes from anywhere in the world. This poses new challenges for local jurisdictions in regulating genetic testing, traditionally a tightly-regulated industry. Some Internet-based genetic tests have the capacity to cause significant confusion or harm to consumers who are unaware of the risks or potential variability in quality. The emergence of some online products of questionable content, unsupported by adequate scientific evidence, is a cause for concern. Proliferation of such products in the absence of regulation has the potential to damage public trust in accredited and established clinical genetic testing during a critical period of evidence generation for genomics. Here, we explore the challenges arising from the emergence of Internet-based DTC genetic testing. In particular, there are challenges in regulating unaccredited or potentially harmful Internet-based DTC genetic testing products. In Australia, challenges exist for the Therapeutic Goods Administration, which oversees regulation of the genetic testing sector. Concerns and challenges faced in Australia are likely to reflect those of other comparable non-US jurisdictions. Here, we summarize current Australian regulation, highlight concerns, and offer recommendations on how Australia and other comparable jurisdictions might be more proactive in addressing this emerging public health issue.

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Utilization of Genetic Counseling after Direct‐to‐Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

Cited by 41 publications

References 41 publications

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

In this issue

Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions

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