Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Implementation of genomics in medical practice to deliver precision medicine for an Asian population.

Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by developing an evolving reference base of genomic and phenotypic data and a framework to return medically significant variants to consenting research participants applicable for the Asian context. Targeting 10,000 participants, over 2000 Singaporeans, with no known pre-existing health conditions, have consented to an extensive clinical health screen, family health history collection, genome sequencing and ongoing follow-up. Genomic variants in a subset of genes associated with Mendelian disorders and drug responses are analysed using an in-house bioinformatics pipeline. A multidisciplinary team reviews the classification of variants and a research report is generated. Medically significant variants are returned to consenting participants through a bespoke return-of-result genomics clinic. Variant validation and subsequent clinical referral are advised as appropriate. The design and implementation of this flexible learning framework enables a cohort of detailed phenotyping and genotyping of healthy Singaporeans to be established and the frequency of disease-causing variants in this population to be determined. Our findings will contribute to international precision medicine initiatives, bridging gaps with ethnic-specific data and insights from this understudied population.

Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

The original version of this Article contained an error in the spelling of the author Geoffrey S. Ginsburg, which was incorrectly given as Geoffrey Ginsburg. This has now been corrected in both the PDF and HTML versions of the Article.

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

PURPOSE: While there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from the National Human Genome Research Institute's (NHGRI) Implementing GeNomics In pracTicE (IGNITE) Network in identifying key constructs, opportunities, and challenges associated with driving sustainability of genomic medicine in clinical practice. METHODS: Network members and affiliates were surveyed to identify key drivers associated with implementing and sustaining a genomic medicine program. Tallied results were used to develop and weigh key constructs/drivers required to support sustainability of genomic medicine programs. RESULTS: The top three driver-stakeholder dyads were (1) genomic training for providers, (2) genomic clinical decision support (CDS) tools embedded in the electronic health record (EHR), and (3) third party reimbursement for genomic testing. CONCLUSION: Priorities may differ depending on healthcare systems when comparing the current state of key drivers versus projected needs for supporting genomic medicine sustainability. Thus we provide gap-filling guidance based on IGNITE members' experiences. Although results are limited to findings from the IGNITE network, their implementation, scientific, and clinical experience may be used as a road map by others considering implementing genomic medicine programs.

Effects of provision of type 2 diabetes genetic risk feedback on patient perceptions of diabetes control and diet and physical activity self-efficacy.

OBJECTIVE: We examined effects of providing type 2 diabetes genetic risk feedback on controllability perceptions. METHODS: This is a secondary analysis of a randomized controlled trial in which overweight/obese Veterans Affairs patients without diabetes received conventional type 2 diabetes risk counseling that included either (1) personalized diabetes genetic risk feedback (genetic risk arm) or (2) eye disease counseling (comparison arm). Perceived diabetes control, and dietary and physical activity self-efficacy were compared between study arms, and between the comparison arm and each of 3 DNA-based genetic risk levels. RESULTS: Participants (N=531) were predominately male, middle-age, and African American. Immediately post-counseling, perceived diabetes control was higher for the genetic risk arm (risk levels combined) than the comparison arm (p=0.005). In analyses by genetic risk levels, low genetic risk participants reported higher perceived diabetes control than comparison participants (p=0.007). Immediately post-counseling, low genetic risk participants reported higher dietary self-efficacy in situations when mood is negative compared with controls(p=0.01). At 3 months, no differences in constructs were observed. CONCLUSION: Genetic risk feedback for diabetes has temporary effects on perceived controllability among patients with low genetic risk. PRACTICE IMPLICATIONS: Clinicians and other stakeholders should consider the limited effects on behavior change of diabetes genetic risk feedback.