UH Center for Human Genetics Helps Patients Address Some of Medicine’s Toughest Questions

UH Clinical Update | December 2025

The Center for Human Genetics at University Hospitals plays a critical role – namely, to provide all the genetic services for the hospital system. And it’s a long list, including pre-conception clinics for would-be parents, prenatal clinics for those expecting, as well as clinics covering pediatrics, metabolic disorders, cancer genetics, cardio-genetics, neuro-genetics, craniofacial conditions, hemophilia, sickle cell disease, neural tube defects, Huntington’s disease and other specialty clinics.

The busy team providing this care at UH includes eight clinical geneticists and 12 genetic counselors, as well as two nurses and a dietitian, who provide clinical support for patients with metabolic disorders.

Medical Director and geneticist Anna Mitchell, MD, PhD, leads the group. Her team is in the business of answering questions – for patients as well as providers, Dr. Mitchell says. They manage results of thousands of different genetic tests each year, each with their own nuances of interpretation to master.

“Most of the time, patients are referred to us by either a primary care provider or another specialist who has a question,” Dr. Mitchell says. “Usually it’s ‘Is there a genetic reason for this medical issue?’”

An initial patient visit to a Center for Human Genetics clinic is comprehensive, usually taking about an hour, Dr. Mitchell says. There’s much information to be gathered, including detailed medical history for the patient, in-depth family history, review of existing medical records and any previous workups.

“We then take all that information and decide on what would be the most useful next steps,” Dr. Mitchell says. “Is there more imaging that would be helpful? Are there any other specialty evaluations, other laboratory work? Ultimately, we’re deciding whether there's a need or a role for genetic testing to help figure out what's going on with the patient, and if so, what's the best test to order.”

The team also helps patients navigate what can be a sometimes-difficult process getting genetic testing covered by their insurance, Dr. Mitchell says.

Genetic testing results typically take several weeks to come back. At that time, the team reconnects with the patient and family to go over the results and what they mean.

“Is there a diagnosis?” Dr. Mitchell says. “What other screening do they need? What other specialists might they need to see? Are there other family members who are also at risk, and should genetic testing be offered to them as well? These are the questions we’re addressing.”

In addition to this clinical expertise, the Center for Human Genetics also features advanced laboratory capabilities. Its lab is housed in state-of-the-art facilities and has offered genetic screening and diagnostic testing for numerous genetic conditions for more than 25 years. Combining clinical practice with genetic research, it offers patients advanced, innovative diagnostic testing, including prenatal Triple Check and Quad Check screens, high-quality chromosome analysis and direct DNA analyses.

Accessibility is also a priority. In recent years, the Center for Human Genetics has expanded beyond main campus to satellite clinics in Fairlawn, Geauga, Parma and North Ridgeville.

“We’re trying to create clinics that ring the city,” Dr. Mitchell says. They’ve also introduced new telehealth options.

“With Salem and UH Samaritan, the patients come to the facility for the telehealth appointment,” she says. “But starting in the pandemic and continuing, we’ve offered virtual appointments where patients can be at home. For people who live further away, or cancer patients who are undergoing chemotherapy, to have to get in the car and drive to an appointment is challenging. If they can just be at home and dial up, that improves accessibility. We've in the past year also increased our number of metabolic providers, so now we've got those clinics on both the east side and west side.”

Dr. Mitchell says she expects her team’s work to only escalate.

“More and more medical issues are now recognized as having a genetic component,” she says. “And we’ve made progress on the research side in terms of identifying the genes for different medical issues.”

She gives the examples of enzyme therapy to replace a missing protein and “correcting” broken gene in sickle cell disease or spinal muscular atrophy as progress that geneticists and other researchers will build on to get better outcomes for patients.

“The number of conditions where we have some kind of an intervention or a treatment to offer is expanding, which is super- exciting,” she says.