Genetic testing prior to a medical procedure can enable better-informed decisions that lead to more successful health outcomes. But consenting to a test that may reveal one’s susceptibility to future illness is itself a decision requiring careful consideration. Learning about one’s biological predispositions toward various diseases can have long-term psychological impact. Beyond concerns about physical health, there may be worries about how the genetic revelations of a test could affect one’s insurance, employment or family status.
A new study led by Heather Gardiner, associate professor in the Department of Social and Behavioral Sciences, aims to improve decision-making support for those who are considering genetic testing before donating a kidney. In particular, the study is designed to support African Americans, who overall develop kidney failure at rates four to five times higher than Americans of European descent. Studies indicate a factor in this disparity may be genetic variants in the Apolipoprotein L1 (APOL1) gene. These variations, found primarily in populations with continental African heritage, are associated with increased risk for chronic kidney disease and end-stage kidney disease. Testing for this gene variant generally isn’t a required part of medical screening for a living kidney donor, but potential donors may be offered it as a choice.
“We should be making sure that everybody's fully informed before they undergo genetic testing. We want to create a tool that will help people navigate all the risks and benefits,” says Gardiner, who directs the college’s Health Disparities Research Lab. “There can be long-term health issues, financial issues. Ethically and morally, we need to pay more attention to people who are taking the step of making a kidney donation and make sure they are well cared for.”
Her study, funded by the National Institute of Diabetes and Digestive and Kidney Diseases, will use focus groups and surveys to build a shared decision-making tool that prospective kidney donors, in collaboration with clinicians and donor advocates, could use as a guide.
“Given all that we know about APOL1 and the need for genetic testing in order to identify people who are likely to have to develop kidney disease later in life, we just want to be able to lay all this information out in a way that is easily accessible,” Gardiner says. “So people can understand it, and we can help them make a decision that is right for them based on their values and their preferences.”
The project will have multiple phases, beginning with community focus group conversations. Those groups will help Gardiner’s team—which includes Sarah Bauerle Bass, associate professor of Social and Behavioral Sciences; Ilene L. Hollin, assistant professor in the Department of Health Services Administration and Policy; and Avrum Gillespie, associate professor of medicine at Temple’s Lewis Katz School of Medicine—develop a better understanding of how people feel about issues including kidney disease, donation and genetic testing and how they might want relevant information communicated to them. Gardiner, who also directs the Office of Community Engaged Research and Practice at the College of Public Health, will work with community groups to recruit group participants who are of the age where they could potentially be a living donor but who have no experience with kidney donation. From those group discussions, the team will develop a quantitative survey to numerically score the importance of specific perceived risks and benefits.
A separate stakeholder committee will provide added input from healthcare providers, individuals who have donated in the past, and people on transplant lists. From this research, Gardiner’s team will design, pilot-test and refine a shared decision-making tool that will help potential donors get the explanations and support they need.
“We know that ethnic minorities may have different barriers and facilitators to shared decision-making. There may be medical mistrust, differences in cultural values,” Gardiner says. “We want to make sure we tap into all of the things that might change preferences around shared decision making and around living donation.”
Separate research, including the nationwide APOLLO study, is ongoing to assess long-term outcomes for kidney recipients and donors who have tested positive for the APOL1 variations. This growing body of research will help clinicians and policymakers evaluate when and to whom APOL1 testing should be offered, what potential donors should be told about the genetic testing, and how test results should be used to evaluate a prospective donor’s suitability.