Direct-to-Consumer Medical Testing in the Era of Value-Based Care

Rockwell, Kimberly Lovett

doi:10.1001/jama.2017.5929

Cited by 32 publications

(19 citation statements)

References 5 publications

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“…The medical conditions to target in testing may need to be significant, treatable, or better managed with early detection. On the other hand, for low-penetrance susceptibility loci or common variants, it is unclear how medically actionable these typically are 13,14 compared with highly penetrant variants.…”

Section: Genetic Testing In Practicementioning

confidence: 99%

Genomic Sequencing Expansion and Incomplete Penetrance

Shieh

2019

Pediatrics

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BACKGROUND: Genetic data have the potential to impact patient care significantly. In primary care and in the ICU, patients are undergoing genetic testing. Genetics is also transforming cancer care and undiagnosed diseases. Optimal personalized medicine relies on the understanding of disease penetrance. In this article, I examine the complexity of penetrance. METHODS: In this article, I assess how variable penetrance can be seen with many diseases, including those of different modes of inheritance, and how genomic testing is being applied effectively for many diseases. In this article, I also identify challenges in the field, including the interpretation of gene variants. RESULTS: Using advancing bioinformatics and detailed phenotypic assessment, we can increase the yield of genomic testing, particularly for highly penetrant conditions. The technologies are useful and applicable to different medical situations. CONCLUSIONS: There are now effective genome diagnostics for many diseases. However, the best personalized application of these data still requires skilled interpretation.

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Section: Genetic Testing In Practicementioning

confidence: 99%

Genomic Sequencing Expansion and Incomplete Penetrance

Shieh

2019

Pediatrics

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“…Finally, it is easy to assume that if SST+ moves from a medical to a private domain, it would eliminate the involvement of the medical professionals. Drawing again on the example of direct-to-consumer genetic testing, the transition may not obliterate the role and responsibility of medical professionals (Lovett Rockwell 2017 ). Lack of market oversight and accountability may exploit the hopes and fears of prospective parents, leading them back to the doctor’s office to help navigate the complexities of the selection and conception process (emotionally and practically).…”

Section: Exploring the Mediating Effects Of Sst+mentioning

confidence: 99%

Accounting for the Moral Significance of Technology: Revisiting the Case of Non-Medical Sex Selection

Kudina

2018

Bioethical Inquiry

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This article explores the moral significance of technology, reviewing a microfluidic chip for sperm sorting and its use for non-medical sex selection. I explore how a specific material setting of this new iteration of pre-pregnancy sex selection technology—with a promised low cost, non-invasive nature and possibility to use at home—fosters new and exacerbates existing ethical concerns. I compare this new technology with the existing sex selection methods of sperm sorting and Prenatal Genetic Diagnosis. Current ethical and political debates on emerging technologies predominantly focus on the quantifiable risk-and-benefit logic that invites an unequivocal “either-or” decision on their future and misses the contextual ethical impact of technology. The article aims to deepen the discussion on sex selection and supplement it with the analysis of the new technology’s ethical potential to alter human practices, perceptions and the evaluative concepts with which we approach it. I suggest that the technological mediation approach (Verbeek, 2005 , 2011 ) can be useful to ethically contextualize technologies and highlight the value of such considerations for the informed deliberation regarding their use, design and governance.

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“…The bill was introduced again in 2007 and revised and reintroduced in 2010 (S.976, S. 5440). A major reason that the legislation was not passed was fear that too much oversight might impair medical progress and, perhaps, curtail commercial growth (Rockwell, 2017).…”

Section: Response and Policy Optionsmentioning

confidence: 99%

“…Furthermore, most companies do not meet international transparency guidelines related to confidentiality, privacy, and secondary use of data (Laestadius, Rich, & Auer, 2017). DTC tests seldom are based on published guidelines for appropriateness of testing to guide clinical decisions regarding risk of, diagnosis of, or treatment of disease (Rockwell, 2017).…”

Section: Introductionmentioning

confidence: 99%