Improving access to genetic testing and counseling for the more than 30 million Americans who are living with a rare disease could improve research and ultimately patient outcomes, according to a study led by Mayo Clinic researchers.
The study — published June 23 in the Journal of Translational Medicine — spanned four years and looked at cases of 1,152 patients diagnosed with rare diseases. Genomic testing was given to 855 of the patients and researchers found that 42.7 percent resulted in cases "solved or likely solved patients had changes in their medical approaches based on the genomic testing results," according to the news release.
"Genomic testing has proven to be an accurate, scalable and affordable tool for healthcare providers to diagnose rare diseases for patients with complex medical histories," Konstantinos Lazaridis, MD, the Carlson and Nelson endowed director of the Mayo Clinic Center for Individualized Medicine said in a statement. "However, challenges remain for practitioners who lack the time, expertise, appropriate tools or experience to interpret genomic findings correctly."
To remove some of those barriers itself, in 2020 the Mayo Clinic established the Genetic Testing and Counseling Unit. The department provides counseling to patients seeking genomic testing, speeds up referral times and allows tests to be ordered via sub-specialty clinicians.
Researchers say Mayo Clinic's model "bridges a critical genomic testing and counseling access gap, maintaining continuity of care while providing referrals for those patients who would most benefit from further evaluation with trained medical geneticists.