The COVID-19 pandemic turned medical care upside down. Both doctors and patients cancelled appointments as they weighed the risks against the benefits.
But now telehealth is zooming, with more patients connecting with care providers through computers, tablets and phones. One area of medicine – genetic counseling – was particularly suited to the format, allowing patients to easily access this important care – especially for those who have complex conditions, said Dr. Natasha Shur, a medical geneticist at Children’s National in Washington, D.C.
Children’s has offered telehealth services for more than two years, but it really caught on this year when higher-risk patients were urged to avoid unnecessary visits to clinics and hospitals, Shur said during a podcast with the National Organization for Rare Disorders (NORD). The NORDpod podcast also featured genetic counselor Monisha Kisling, who said genetic counseling works well virtually.
“With genetic counseling, we don’t have to examine patients physically in any way,” Kisling said.
Encountered often in pregnancy care, genetic counseling also plays a role in managing the health of children and adults. A disease or health problem that gets passed down from someone’s parents is called “genetic.” Genetic counselors gather health histories from patients to assess their risk of certain genetic problems. Genetic testing can help doctors diagnose conditions, including rare diseases.
Genes are segments of DNA that tell a person’s cells what to do. They determine how we look and how our bodies function. Genetic testing, which involves blood and saliva tests, looks for mutations in DNA inherited from a patient’s parents. For instance, a genetic test using a blood sample can determine if a person has the rare disease Alpha 1 Antitrypsin Deficiency, a condition that impacts the lungs and breathing.
For children and families, virtual genetic counseling visits are more efficient and flexible, said Dr. Shur. The visit also becomes part of the patient’s electronic medical record. In-person visits are still necessary, but a video call between parents and providers can help determine if and when the child needs to be seen in person.
The numbers on outcomes aren’t in yet. But there is anecdotal evidence that remote visits can contribute to better results because patients are less likely to skip appointments or avoid care. One teen girl had resisted coming into the office for visits or sending in “blood spots,” an antigen test using a drop of blood blotted on paper. But now the team now meets with her via computer in the evening, a more relaxed time for her, and she’s keeping up with more appointments.
“She is doing much better, (with) decreased amounts of hospitalizations,” Dr. Shur said.
Another example is the large family of a child with complex health issues. They live a three-hour drive from the clinic and appointments typically involved packing up all the kids for a day-long event. Now, with virtual appointments, they drive to the clinic less often. Another bonus is that for families who need a language interpreter it’s easier to get a translator on the line with a virtual visit
In addition to video appointments, Shura and Kisling say patients and families also can use email for questions that come up or even to send photos of visible problems, like a skin condition.
“We find that iPhone photos are really good quality,” Kisling said. “It’s a way of life now.”
Despite the convenience and success of telemedicine, sometimes an in-person visit is unavoidable. That’s a message NORD’s Board Chairman Marshall Summar shared in April, when the pandemic was still new. Summar, who is also chief of the Division of Genetics and Metabolism at Children’s, said rare disease patients should take full advantage of telemedicine but also should know where to go if they urgently need treatment.
“If you need to go in, go in” he said.
