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Introduction While living donor (LD) kidney transplantation is the optimal treatment for patients with kidney failure, LDs assume a higher risk of future kidney failure themselves. LDs of African ancestry have an even greater risk of kidney failure post-donation than White LDs. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly using APOL1 genetic testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counselling with LD candidates about APOL1 due to a lack of knowledge and skill in counselling. Without proper counselling, APOL1 testing will magnify LD candidates’ decisional conflict about donating, jeopardising their informed consent. Given cultural concerns about genetic testing among people of African ancestry, protecting LD candidates’ safety is essential to improve informed decisions about donating. Clinical ‘chatbots’, mobile apps that provide genetic information to patients, can improve informed treatment decisions. No chatbot on APOL1 is available and no nephrologist training programmes are available to provide culturally competent counselling to LDs about APOL1. Given the shortage of genetic counsellors, increasing nephrologists’ genetic literacy is critical to integrating genetic testing into practice.Methods and analysis Using a non-randomised, pre–post trial design in two transplant centres (Chicago, IL, and Washington, DC), we will evaluate the effectiveness of culturally competent APOL1 testing, chatbot and counselling on LD candidates’ decisional conflict about donating, preparedness for decision-making, willingness to donate and satisfaction with informed consent and longitudinally evaluate the implementation of this intervention into clinical practice using the Reach, Effectiveness, Adoption, Implementation and Maintenance framework.Ethics and dissemination This study will create a model for APOL1 testing of LDs of African ancestry, which can be implemented nationally via implementation science approaches. APOL1 will serve as a model for integrating culturally competent genetic testing into transplant and other practices to improve informed consent. This study involves human participants and was approved by Northwestern University IRB (STU00214038). Participants gave informed consent to participate in the study before taking part.Trial registration ClinicalTrials.gov Identifier: NCT04910867. Registered 8 May 2021, https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000AWZ6&selectaction=Edit&uid=U0001PPF&ts=7&cx=-8jv7m2ClinicalTrials.gov Identifier: NCT04999436. Registered 5 November 2021, https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000AYWW&selectaction=Edit&uid=U0001PPF&ts=11&cx=9tny7v

DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key public health principles and concepts with a focus on equity appear to be lacking in current efforts. We request ‘A Call to Action’ that involves all partners in DNA-based population screening. Potential actions to consider include: a) identification and elimination of systemic barriers that result in health inequities in DNA-based population screening and follow-up; b) creation of a national multidisciplinary advisory committee with representation from underserved communities; c) revisiting well-described public health screening principles and frameworks to guide new screening decisions and initiatives; d) inclusion of the updated Ten Essential Public Health Services with equity at the core in efforts at the local, state and national level.

Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners’ current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one‐time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self‐identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.

Introduction Family history of diabetes has been recognized as an important risk factor of the disease. Family medical history represents valuable genomic information because it characterizes the combined interactions between environmental, behavioral, and genetic factors. This study examined the strength and effect of having a family history of diabetes on the prevalence of self-reported, previously diagnosed diabetes among adult participants of the National Health and Nutrition Examination Survey 19992002. Methods The study population included data from 10,283 participants aged 20 years and older. Gender, age, race/ethnicity, poverty income ratio, education level, body mass index, and family history of diabetes were examined in relation to diabetes status. Diabetes prevalence estimates and odds ratios of diabetes were calculated based on family history and other factors. Results The prevalence of diabetes among individuals who have a first-degree relative with diabetes (14.3%) was significantly higher than that of individuals without a family history (3.2%), corresponding to a crude odds ratio of five. Both prevalence and odds ratio estimates significantly increased with the number of relatives affected with diabetes. Family history was also associated with several demographic and risk factors. Conclusion Family history of diabetes was shown to be a significant predictor of diabetes prevalence in the adult U.S. population. We advocate the inclusion of family history assessment in public health prevention and screening programs as an inexpensive and valuable source of genomic information and measure of diabetes risk.

Background Family history of a chronic disease, such as high blood pressure, is an important predictor of future disease. The integration of genomics information into public health activities offers the opportunity to help raise awareness among populations at high risk for high blood pressure. Context The prevalence of high blood pressure in blacks at any age is about twice that of whites. Detroit is second among major U.S. cities in the percentage of residents who are black (81.6%). According to data from the Behavioral Risk Factor Surveillance System 19982002, the perceived health status of Detroit respondents was one of the worst in Michigan; 17.4% of Detroit respondents reported no health care coverage; 69.6% reported being obese or overweight; and 33.1% reported no physical activity. Methods The Michigan Department of Community Health and the University of Michigans Center for Genomics and Public Health collaborated on a pilot program to develop a worksheet emphasizing the importance of personal family history of high blood pressure. The handout was distributed to individuals at primarily black, Detroit-area churches during an annual screening event for high blood pressure and stroke. Consequences Approximately 500 handouts were distributed; a collaborative effort was achieved; genomics information was integrated into an existing program; the ability to reach churches in a predominantly black community was demonstrated; consumers reported interest in the subject matter; and an appropriate literacy level for the handout was attained. Interpretation The strengths of this pilot program and suggested modifications may serve to guide others in genomics and/or chronic disease programs in future endeavors.