![]() ![]() ![]() The polygenic component of the score was developed and optimized using 28,047 cases and 251,772 controls (70% of UK Biobank participants of European ancestry), while the weights for APOL1 effects were derived based on UK Biobank participants of African ancestry (967 cases and 6,191 controls). The score was designed to ensure transferability across major continental ancestries, genotyping platforms, imputation panels, and phenotyping strategies, and was tested following ClinGen guidelines. Finally, reporting of genome sequencing results might be constrained by intellectual property restrictions, and this issue will need to be addressed by regulatory bodies.Methods We developed and validated a genome-wide polygenic score (GPS) for CKD defined by estimated glomerular filtration rate (eGFR) <60 mL/min/1.73m 2 using common variant association statistics from GWAS for eGFR combined with information on APOL1 risk genotypes. Patients are likely to be concerned about how genetic testing would be paid for and how such testing may affect insurability. ![]() As for all health data, it is important to maintain confidentiality of genetic data and regulate third-party access. Such pre- and post-test counseling could be conducted by medical geneticists or genetic counselors using Web-based patient portals as aids however, due to shortage of such providers, training of other care providers may be necessary. Once genome sequencing is completed, patients need to be educated about the interpretation and implications, and the options available for following up the results. ![]() Perceived concerns about insurance and employability will remain despite the passage of the Genetic Information Nondiscrimination Act, especially in the realm of long-term care and life and disability insurance. Before genome sequencing, patients will require counseling about the potential burden of genetic knowledge and implications for family members or reproductive choices. However, the right to not receive or to decline particular types of information may clash with the obligations of the physician when critically important health information is available. There is an emerging consensus about patients’ right to receive or decline to receive their own data, and patients should be empowered to choose to seek and use such data in an informed manner. Bioethicists, Genetic Counselors, and Policy Makers Communication of genome sequencing results should take into consideration patients’ preferences about what risk information they wish to know and have placed in their EHR. Providers and patients should be aware that the genetic risk for diseases is probabilistic, not deterministic, and often can be modified by lifestyle and environmental factors. Web-based, secure, and user-friendly portals can empower patients to know more about how their genomic information is used for assessing disease risk, prognostication, and tailored drug therapy. Successful integration of genomics into clinical care will require minimizing the burden on providers by using tools such as pictograms and decision aids to communicate genomic information to patients. Interpretation of genomic data will be influenced by family history, and thus improved methods of acquiring and representing family history in the EHR are needed. An optimized EHR will leverage genomic knowledge and linked resources to facilitate interpretation and application of genomic data in the clinical setting. Health-care providers will need to learn more about the “new” genetics and recognize that genetic variants may influence response to drugs and susceptibility to common “complex” as well as Mendelian diseases. ![]()
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