The uses of telehealth in pediatrics are varied, enabling expanded care for various acute and chronic conditions, like type 1 diabetes and behavioral health. One of the significant use cases of the care modality is diagnosing and caring for children with genetic conditions. 

A genetic condition or disorder is a disease caused by a partial or total change in the DNA sequence, according to the National Human Genome Research Institute. Genetic disorders can be caused by a mutation in one or multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes, the structures that carry genes.

Telehealth can be a significant boon for pediatric patients with genetic conditions.

“Patients with rare diseases sometimes have five appointments a week, so it’s very hard — it’s expensive for them to travel,” said Natasha Shur, MD, a medical geneticist in the Rare Disease Institute at Children’s National and professor of pediatrics at George Washington University School of Medicine, in a phone interview. “Without telehealth, they get worse care because you just cannot keep up with all these appointments.”

Providers have been experimenting with virtual modalities in genetics-based pediatric care for years, and now a new study provides further proof that telemedicine can be effectively used in this arena.


Since the beginning of the COVID-19 pandemic, Children’s Hospital of Pennsylvania (CHOP) has offered telehealth for patients suspected of having a genetic condition but not yet diagnosed and established patients needing ongoing management, Ian Campbell, MD, PhD, told mHealthintelligence in an email. 

Campbell and his fellow researchers decided to assess the clinical effectiveness of telehealth for pediatric patients with both suspected and confirmed genetic conditions. 

They compared data of patients seen by the genetics team in the first six months of the pandemic to patients seen during the same months one year prior. They gathered various types of data from EHRs, including visit types, diagnoses, demographic characteristics, and laboratory data, for 5,854 outpatient encounters that occurred both during and before the pandemic.

Researchers found no difference in the molecular diagnosis rate between those who received care via telehealth or in person.

“We found patients were recommended to undergo more genetic testing when they were seen by telemedicine,” Campbell said. “However, seemingly due to sample collection problems, testing was actually completed at similar rates between the two groups. The rate of new genetic diagnosis was no different between the two groups.”

Further, they found that patients who had a virtual visit were more likely to be White, prefer to speak English and live in affluent neighborhoods. 

The researchers published their findings in Pediatrics.


The CHOP study is the latest research to affirm that telehealth can be used to care for children with genetic conditions effectively.

In 2020, Children’s National Hospital in Washington, D.C., published a study in the American Journal of Medical Genetics describing its telemedicine program for genetics-based care.

The program began as a pilot in December 2018 and was scaled when lockdowns were implemented in response to the COVID-19 pandemic.

“We began with a pilot study, which over two years [provided care for] over 100 patients prior to the pandemic, and we had a standard operating procedure for genetics patients,” said Children’s National geneticist Shur. “When the pandemic hit, a lot of genetics patients were afraid to come to the hospital, [and] our entire division decided to convert to telehealth-first model.”

Though the pilot program included several providers, it primarily involved one geneticist and one genetic counselor, according to the study.

Once the pandemic hit, all 13 geneticists in Children’s National’s department and all the genetic counselors and dieticians began participating in the telehealth program. Geneticist encounters jumped from 136 in the two years pre-pandemic to 150 between March 17 and April 15, 2020.

By the end of 2020, 1,000 visits for genetic conditions had been completed via telehealth, and in 2021, that figure rose to 3,087.

Today, Children’s National has more of a hybrid model, with about 40 percent of visits completed through telehealth and 60 percent in person.

“What that means is that patients can now choose whether they want to start with a telehealth visit or an in-person visit,” Shur said. “That’s up to the patient. We will do everything the same, but if there’s a problem — so let’s say we need a better physical examination after the telehealth visit, then we will follow up with a shorter in-person visit.”

Telehealth and in-person visits for genetics-based care are conducted similarly, with geneticists examining family history, data like growth curves, and some physical features to determine if genetic testing is necessary.

For example, Shur diagnosed an autistic child with 22q11.2 deletion syndrome after examining them via telehealth and sending an at-home swab test.

“I was able to observe him in the home, see his facial features,” she said.  

And in fact, the CHOP research shows that there is no substantial loss of information when a visit is conducted via telehealth. The working study hypothesis for Campbell and his team was that some subtle information provided by the physical exams would be lost over video.

“However, we actually found the diagnosis rate was higher — although not statistically significantly higher — in the telemedicine group,” he said. “This was a bit of a surprise.”

At CHOP, the genetics-based care team continues to conduct approximately a quarter of patient visits by telemedicine.

“The takeaway for us was that telemedicine is a viable alternative to in-person evaluation in pediatric genetics, at least in many cases,” Campbell said. “I think many of our families find telemedicine more convenient, and so it’s reassuring to know that the care quality we can provide remotely doesn’t seem inferior. I think this is important information for organizational leaders and insurers.”


Virtual care for children with genetic conditions is not exempt from the barriers facing telehealth use for other conditions.

For example, language barriers are one of the critical challenges Children’s National had to overcome when providing genetics-based care.

“We do have interpreters always,” said Shur. “We will call an interpreter and ask if people need an interpreter at every visit. But nevertheless, it can be challenging. Sometimes we [have] had interpreters drop off in the middle [of the visit].”

Another issue is background noise during a virtual visit. In some cases, patients cannot find a quiet and private space for a telehealth session. One way Children’s National addresses the issue is by offering mobile carts that families can use to access telehealth, Shur said.

Further, licensure remains an issue for telehealth-based care, she added. Before the pandemic, about half of all states participated in licensure compacts that enabled only some providers to care for out-of-state patients, according to a report by public policy research organization R Street Institute. During the pandemic, the Centers for Medicare and Medicaid Services and most states got rid of this limitation, allowing providers to conduct telehealth visits across borders.

But today, only 19 states have permanent or long-term policies allowing interstate telemedicine. This will likely curb telehealth expansion, though the care modality remains popular — even among traditionally underserved populations.

Thus, offering telehealth is not always straightforward but worth the effort, according to Shur.

“[Telehealth is] not necessarily always easier,” she said. “That’s a misconception. But when it leads to increased access to care, it’s worth the time and investment and continuing to try to work with our families and providers to improve it.”

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