The genetics and screening of familial hypercholesterolaemia
To consider broadly the potential impacts of new genetic technologies on clinical practice, a conference was convened at the Banbury Center of the Cold Spring Harbor Laboratories. Stakeholders from all sectors (industry, academia, basic and applied research, clinical genetics, medicine, law, patient advocacy, bioethics, and policy and regulatory) were brought together to explore areas of agreement and disagreement on how best to foster these changes and to guide future deliberations. We first examined the current state of technology development and potential applications. Next, current genetic applications in medicine were reviewed with the goal of identifying lessons learned and practices that can be applied to new applications. Last, the group explored regulatory and policy environments necessary for translating new technologies and knowledge into practice. We sought to better define and facilitate the necessary interaction between research, application, and policy and regulation. This perspective provides a summary of the collective thinking that emerged and a tool to identify issues for consideration and aid future discussions.