How Telemedicine Reshaped Genetic Counseling during the COVID-19 Pandemic

Mike Philbin

Mike Philbin, a retired chemist and patient advocate, received genetic counseling via telemedicine at MSK.

Sometimes a physical exam is a critical part of a healthcare visit. But patients are learning that for many medical appointments, a telemedicine visit can be just as valuable. Some people even prefer telemedicine, because they find speaking with a healthcare provider from home or work more convenient.

In the early months of the COVID-19 pandemic, a number of clinical services at Memorial Sloan Kettering Cancer Center pivoted to telemedicine. This allowed patients — as well as many healthcare providers — to stay at home, providing an increased level of protection against infection with COVID-19.

A recent study from MSK investigators found that most patients who received genetic counseling via telemedicine during the early months of the pandemic reported being highly satisfied with the care they received. More than three-quarters said they would recommend telemedicine visits to others. The research was published in JCO Oncology Practice on October 15, 2021.

“Very early on, we realized this would be a great opportunity to ask for feedback from patients,” says genetic counselor Kelsey Breen, who is first author of the paper. “Even before the pandemic we were offering telemedicine to some patients, and we wanted to learn more about the patient experience.”

Genetic counseling and cancer risk assessment is an important part of cancer care at MSK. Through this process, genetic counselors and doctors help patients understand their risk for inherited cancers. Based on results from genetic testing and family cancer history, the expert team provides patients and their family members with recommendations for screening and ways to reduce their risk.

Genetic Counseling and Genetic Testing for Hereditary Cancer at MSK
Genetic counseling and genetic cancer risk assessment are an important part of cancer care. Learn how Memorial Sloan Kettering’s genetic counselors, doctors, and researchers guide people through the process of genetic testing and cancer risk assessment.

Mike’s Experience with Telemedicine

Mike Philbin, a retired chemist who lives in Central New Jersey, is one of the patients who has benefited from being able to access genetic counseling through telemedicine.

In 2014, when he was 52, Mike was diagnosed with early-stage prostate cancer, which was successfully removed by urologic surgeon Vincent Laudone. Mike’s older brother had also been diagnosed with prostate cancer in his 50s, and Mike’s father died of metastatic prostate cancer in his 50s. Prostate cancer and several other cancers — breast, pancreatic, and ovarian — are more common in people who have inherited mutations (also called germline mutations) in the genes BRCA1 and BRCA2.

In early 2020, through his work as a volunteer with MSK’s Patient and Family Advisory Council for Quality (PFACQ), Mike learned about MSK’s programs for helping people with hereditary cancer syndromes. Because of his family history, Mike decided to have genetic counseling to help him decide if he should be tested for inherited mutations. At his first appointment in May 2020, Mike discussed his family history over telemedicine with MSK geneticist Alicia Latham and genetic counselor Sarah Kane. After that conversation, he decided to have genetic testing.

At his follow-up appointment a few months later, also done by telemedicine, Mike got the results from his genetic tests from Ms. Kane and MSK urologic oncologist Maria Carlo. He learned that he had a mutation in the BRCA2 gene. He also had a “variant of unknown significance” in the BRCA2 gene — a change in the gene that has an unclear association with cancer due to a current lack of available scientific information.

Based on the BRCA2 mutation, Mike is now enrolled in special surveillance programs for patients with BRCA and other hereditary mutations. He’s had a mammogram and other cancer screenings.

“The nice thing about telemedicine is that it was easy for Sarah to bring the doctors into our appointments,” Mike says. “We were all in our little virtual room. I found it to be an effective way to communicate about complex information.”

Ms. Breen echoes Mike’s comments about the ease of coordinating multiple participants in the same appointment. “These conversations with multiple family members are facilitated much more easily when they’re virtual,” she says. “Telemedicine has also improved our team’s efficiency in some ways and provided new opportunities for collaboration.”

High Satisfaction for Virtual Visits

Mike’s experiences of genetic counseling through telemedicine were typical of the patients surveyed in the MSK study.

Among 380 patients who responded to the survey, most reported being satisfied with their telemedicine appointment, although about half said they would prefer to have future appointments in person. However, as the pandemic progressed, the study found that significantly more patients were satisfied with their telemedicine appointment. Challenges remain, however, as the study found that people with less educational attainment were generally less comfortable with telemedicine compared with those with the highest educational attainment.

We realized this would be a great opportunity to ask for feedback from patients.
Kelsey Breen genetic counselor

The JCO Oncology Practice study was led by medical oncologist Zsofia Stadler, genetic counselor Erin Salo-Mullen, and behavioral scientist Jada Hamilton, Co-Director of the Genomics, Risk, and Health Decision-Making Laboratory, whose research focuses on the psychosocial aspects of coping with genetic counseling and cancer risk. Future research from the team will look more closely at the role of telemedicine in genetic counseling, including taking patients’ race, ethnicity, and education into account.

From the Lab to the Doorstep

For Mike, genetic testing required a blood test, which he got at MSK Basking Ridge near his home. But thanks to contributions from MSK’s Molecular Diagnostics Service, specifically its germline genetics team led by pathologist Diana Mandelker, germline genetic testing no longer requires a visit to a lab. In response to patient needs during the COVID-19 pandemic, the team validated performing genetic testing using saliva rather than blood.

The saliva collection kit is mailed to patients at their homes and enables them to send in a saliva sample at their own convenience, rather than having to schedule an appointment for a blood draw. To date, about 800 patients have had genetic tests performed in this way.

“During the COVID-19 pandemic, many appointments were conducted via telemedicine, and scheduling blood draws became logistically challenging,” says Dr. Mandelker, Director for Germline Genetics. “So we wouldn’t have to delay genetic testing for MSK patients, we quickly validated saliva as a source of DNA for this testing and figured out the logistics for how to package and deliver saliva kits to our patients’ homes.”

“We had to figure out all the elements needed for the kit, including the instruction manual,” adds Silvana Ostafi, Assistant Manager of the diagnostics molecular genetics team. “We wanted something that could go from the lab to the patient’s doorstep and back.” This major laboratory advance now allows MSK patients and their families to obtain convenient, high-quality, and timely genetic testing without the need for a blood draw. According to Dr. Stadler, Clinical Director of the Clinical Genetics Service, MSK is now offering telemedicine and at-home testing to almost all patients and their families.


Key Takeaways
  • In the early months of the COVID-19 pandemic, a number of clinical services at MSK pivoted to telemedicine.
  • One of these services was clinical genetics, which helps patients understand their risk for inherited cancers based on results from genetic testing and family cancer history.
  • A recent study from MSK investigators found that most patients who received genetic counseling by telemedicine were highly satisfied with the care they received.
  • Mike Philbin, one of the patients who received these services, was able to undergo cancer screenings based on the findings from his genetic tests.

This research was supported by National Cancer Institute grant P30 CA008748 and the Robert and Kate Niehaus Center for Inherited Cancer Genomics. Dr. Hamilton was also supported by a Mentored Research Scholar Grant in Applied and Clinical Research (MRSG-16-020-01-CPPB) from the American Cancer Society.