Abstract
University of California, San Francisco's UCSF Health aims to bridge the divide between traditional genetics and direct-to-consumer (DTC) testing through its new Preventive Genomics Clinic.
“The main goal of the clinic is to offer an option for people who have questions and wouldn't traditionally need to see a doctor about them, but who could get, in my opinion, better clinical support than trying to do it themselves online,” Bryce Mendelsohn, M.D., Ph.D., a UCSF clinical geneticist and the clinic's lead clinician, told Clinical OMICs.
He and genetic counselor Marta Sabbadini, Ph.D., see two to three patients a week, with capacity to see a few hundred people a year, with plans to expand staffing based on demand. “We're trying to cautiously get the word out that we're available just to provide that navigation, but we're not selling tests,” Mendelsohn said.
Instead, the clinic consults with healthy adult patients without a family background of genetic disease. Patients seeking a diagnosis for active symptoms, or for conditions for which they have a strong family history, are referred to UCSF specialty clinics focused on cancer, heart disease, neurodegenerative disease, or other genetic conditions.
Consultations cover patient goals and values, as well as the benefits and limitations of testing. Sometimes, Mendelsohn said, patients contacting the clinic about getting tested change their minds: “That's totally fine with me.”
Located in San Francisco, the Clinic offers carrier screening, cancer and heart disease risk screening, pharmacogenetic testing, and broad genome screening combining those tests. Sequencing and analysis are carried out offsite at CLIA labs, and Mendelsohn and Sabbadini discuss testing results with patients.
The Preventive Genomics Clinic uses off-site CLIA labs for testing and analysis.
Patients are billed for a specialty medical visit, plus testing. Aside from carrier screening, often covered by insurance, most tests require out-of-pocket costs that can run several hundred dollars, with whole exome and whole genome tests stretching into the thousands.
Mendelsohn said patients include young people interested in starting families, people seeking information about potential side effects to medications recommended by their doctors, people simply curious about what genetic conditions may run in their families—including those with questions after ordering DTC tests, which account for at least half the Clinic's patients.
“Direct-to-consumer testing has been a real boon for the field. It's gotten people engaged and interested in a way that wouldn't have happened if it were just us doctors doing it,” Mendelsohn said.
“As the quality of evidence gets better, and when clinical grade tests become more affordable, I think that genetics can move back into the mainstream of medical practice, and be something that healthy people can do with their doctor, and not have to do it themselves.”