Publications by authors named "J A Tiller"
Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent.
View Article and Find Full Text PDFGenetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia.
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- The SLC6A1 Connect organization was founded to support patients and families affected by a specific genetic disorder, providing resources and scientific insights into the condition.
- Amber Freed started the organization after her son Maxwell was diagnosed with a variant that affects motor development due to issues with the GABA transporter protein.
- The organization has successfully raised over two million dollars, created a supportive network, and hosts an annual symposium that connects families with researchers and biotech companies to advance treatment options.
Importance: Governments worldwide have become increasingly cognizant of the spread of genetic discrimination (negative treatment or harm on the basis of actual or presumed genetic characteristics). Despite efforts by a number of governments to establish regulations addressing this phenomenon, public concern about genetic discrimination persists.
Objective: To identify key elements of an optimal genetic nondiscrimination policy and inform policymakers as they seek to allay genetic nondiscrimination and related public anxieties.