By "positive list" (or "minimal list") we mean a list of genetic variant types associated with medically actionable conditions.
In their own CMA database, 7% of cases carried a diagnosis associated with one of these 146 actionable conditions.
Unresolved issues in the study included discovery of additional reportedly pathogenic alleles at other loci, related to potentially medically actionable conditions (incidental or secondary findings).
Initial clinical recommendations by the American College of Medical Genetics (ACMG) advised that clinical laboratories performing whole exome or whole genome sequencing report findings from 57 genes related to 30 serious actionable conditions, regardless of patient age or preference, and estimated that 1% of reports would include one of these variants.
Similarly, Dorschner et al. screened 1,000 adults for 114 variants associated with medically-actionable conditions and estimated that 1.2% of patients of African descent and 3.4% of patients of European descent would carry a pathogenic or likely pathogenic variant.
A high percentage of European clinical geneticists are aware of DTC GT and the majority do not agree with the model of provision used by many commercial companies for certain severe or actionable health conditions.
Then, using a secure web-based interface, the CPMC provides participants with educational material, collects self-reported participant data (such as medical history, medication use, family history, lifestyle factors, and optional follow-up outcome surveys), and reports personalized results for potentially actionable health conditions and genetic results related to medication response.
Local health officers may take any reasonable actions where health conditions require that immediate action be taken; violations of individual property rights, if actionable, would generally be sorted out after the need for such actions has ended.
In 2013, he co-founded bitHound whose services help development teams gain clear, real-time, and instantly actionable insights into the condition of their software so they can focus on critical issues, save time, and ship with confidence.
As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings.
For instance, Wolf and others consider that "findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors"(Wolf et al. 2012).
