Last week, a genomic medicine clinic opened in Huntsville, Ala. with the aim of utilizing the power of the genomic sequence to identify the causes of illness in children and adults with undiagnosed disease.
The clinic said it is believed to be the first in the world designed solely for providing diagnoses to patients with undiagnosed disease via the exclusive use of whole genome sequencing data. The Smith Family Clinic is a collaboration between HudsonAlpha, Children’s of Alabama and University of Alabama at Birmingham (UAB) Medicine. UAB’s Undiagnosed Diseases Program (UDP) diagnoses and treats patients with undiagnosed diseases, also using DNA sequencing for diagnosis. The program is expanding in January to two clinics, with adults being seen at the Kaul Genetics Building at UAB and pediatric patients being seen at a new clinic located at Children’s of Alabama.
“There are 30 million people living with rare and undiagnosed diseases in this country. Many have been on diagnostic odysseys for an average of seven years, often without a diagnosis. We now have the tools and the team to markedly improve the rate of diagnosis, which is the first step in providing a treatment,” Howard Jacob, Ph.D., executive vice president for genomic medicine at HudsonAlpha Institute for Biotechnology and chief medical genomics officer for the clinic, said in a statement.
The clinic is more than 4,500 square feet and has 25 rooms housed in the Leadership in Energy & Environmental Design (LEED) certified 701 McMillian Way location. It has telemedicine capabilities so diagnoses may be delivered remotely in collaboration with physicians offsite. Genetic counselors will provide pre- and post- sequencing counseling in the clinic, officials said.
“What makes this clinic unique is not only our focus on undiagnosed disease—but also that we will exclusively sequence the whole genome, rather than just part of the genome,” David Bick, M.D., genetic researcher, said in a statement. “Sequencing the whole genome gives us a much larger data set, and we know by experience that many disease-causing variants aren’t identified by sequencing the exome or panels of genes alone."