Children's, News

How Genetics Is Helping Patients with Rare Diseases

Recent advances in genetics research are providing doctors with promising avenues for diagnosing and treating genetically based illnesses. “As genetic testing has become more and more advanced, we can really focus on smaller pieces of DNA, and even read individual letters of DNA, to look for answers to health conditions,” states Anna Hurst, Pediatrician and Assistant Professor of Medical Genetics at the University of Alabama–Birmingham.

The “Diagnostic Odyssey”

Although geneticists can be critical contributors to diagnosis, they are rarely the first health professionals patients visit when searching for answers to medical conditions.  “Usually another doctor, whether that’s a primary care physician or a subspecialist, has noticed there is something different about that individual’s health or development that might make a genetic condition more likely,” explains Dr. Hurst.

When the patient meets with a geneticist, tests are done to try to diagnose the condition. By “putting a name to it,” patients and their families can not only find guidance toward possible treatment, but also feel empowered to seek advice and comfort from national foundations and other support groups.

“I tell my families that those parent organizations can be so important, because other parents know things they don’t teach us in medical school. I always tell my families, if you hear anything in those support groups you think might help your child’s journey, let us know,” advises Dr. Hurst.

Recent Medical Advances

Great strides have been made in recent years to pinpoint location of genetic disorders, thereby leading to greater success in diagnosis and treatment. Among the most important advances has been exome and genome sequencing.

“Ten or 15 years ago, we would look gene by gene and read maybe a few genes at a time. But now, with exome and genome sequencing, we can simultaneously look at almost every gene in the body at once, to be able to take a more comprehensive approach,” says Dr. Hurst. 

There are approximately 6,000 rare diseases, with perhaps 70% of genetic origin. And, with estimates of as many as one in ten people having a rare disease (defined as an illness affecting fewer than 200,000 people), genetic research provides potentially enormous benefits for diagnosing and treating illness. 

Pilot Project and Public Information

Among the most important elements of advancing genetic diagnosis of illness are facilitating patient participation in, and promoting understanding of, the testing process. Because some types of genetic testing may not be covered by insurance, the cost can be prohibitive.

“Children’s Hospital of Birmingham has committed funding for at least 200 children to have whole genome sequencing. To date, we have enrolled about 75, and of those patients, we have a diagnosis of about 30%,” notes Dr. Hurst.

Unlike patient administered home testing, which can be helpful but often does not provide full genetic sequencing, professional medical testing combines completeness in testing with follow-up consultation. “The genome testing really makes things more personalized, and truly individualizes health care plans,” adds Dr. Hurst. 

Public information efforts are another important element of advancing genetic diagnosis and treatment. Among the programs designed to promote public awareness are Rare Disease Day, an international event held on the last day of February, and the Rare Disease Genetics Symposium, an annual two-day seminar hosted by the UAB Department of Genetics, Children’s of Alabama and Alabama Rare, an advocacy group.

“The first day of the symposium has a physician-scientist focus, and on the second, we have a parent and caregiver focus. The theme this year was using technology and collaboration to navigate the rare disease journey,” shares Dr. Hurst. Further information can be found on the National Institutes of Health website (,, and

Offering Hope and Direction

Genetic research and testing will continue to be powerful tools to combat illness, and with further medical advances will come greater empowerment for families seeking answers.

As Dr. Hurst says, “We try to help the family where they are in their journey, and how that information is affecting them. Oftentimes, when they are able to see the benefit, it becomes a very empowering experience. They might feel validated that they have an answer, and then go forward with planning medical care tailored to their specific needs.”   

**To listen to an interview on this topic with Anna Hurst, Pediatrician and Assistant Professor of Medical Genetics at the University of Alabama—Birmingham, follow this link:

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