Telegenetics Is Calling
Geographic barriers used to prevent patients’ access to genetics professionals. Telemedicine has changed that.
How can patients access genetic specialists?
It used to be that most genetic specialists only worked in academic medical centers. For some patients, the location created a barrier because they were intimidated or may not have had the time or resources to travel. More recently, advances in telemedicine have changed the landscape for access to genetics specialists. Hospital systems often offer telemedicine, and some independent telegenetics services are also available.
What is the background of genetic specialists?
There are multiple types of genetic specialists. Genetic counselors and clinical geneticists are among those who interact directly with patients. Genetic counselors are master’s-level trained professionals and clinical geneticists are physicians. Clinical geneticists have completed a fellowship in medical genetics. Both have specialized training in the genetic causes of inherited disease.
Which patients need genetic services?
Traditionally, genetics specialists have focused on single-gene rare diseases like cystic fibrosis or Huntington disease. While these conditions are individually rare, they collectively pose significant health risks. Also, some people who have seemingly common health issues may have an underlying rare syndrome that explains their symptoms.
The best way to decide which patients need genetic services is to use their medical and family history as a guide. For example, patients who have relatives with cancer or cardiac diagnoses at early ages (typically under 50) may benefit from genetic services. The family history needed is more detailed than what is typically collected when performing risk assessment for common diseases. Some technology tools help make the process of collecting family medical history easier. Mainstream Genomics’ DNA Navigator is an example of this.
1. Collins, D. Prevalence of Genetic Conditions/Birth Defects. 1995-2012 Genetics Education Center, University of Kansas Medical center. Accessed 9.19.19 https://www.kumc.edu/gec/prof/prevalnc.html
2. Office of the Surgeon General. My Family Health Portrait. Accessed 9.19.19 https://phgkb.cdc.gov/FHH/html/index.html