Since it can take 5 to 7 years for a patient with a rare disease to receive an accurate diagnosis—which can be the gateway to appropriate treatments and access to life-saving clinical trials—a panel at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) held in Washington, DC, delved into specific associated challenges and how providers might overcome them.
Ellen Matloff, a Genetic counselor, stressed that finding a certified genetic counselor who can help walk a patient through the best diagnostic tests for his or her individual case is of the upmost importance. Genetic counselors can be found through the National Society of Genetic Counselors (NSGC)—as well as other agencies and organizations—and are available via phone.
Jaimie Vickery, vice president of policy and advocacy for Cure SMA, added that another major challenge for disease patients is getting them in front of someone who can recognize the disease for what it is. The primary family doctor often doesn’t know what the specific rare disease in question is, and so, they often are not able to recognize it or don’t know what to do if presented with one. She also stressed the importance of timely diagnoses as they can be pivotal in preventing further damage. For most diseases, especially rare ones, preventing damage is much easier than repairing it.
With the shortage of health care providers and physicians in rare diseases, the panel emphasized that phenotypes should be taken advantage of in this digital age. By using and sharing phenotypes, a worldwide database can be built, which would help genetic counselors and physicians make more accurate and timely diagnoses, according to Matloff.
However, there is also a large subset of individuals who have multisystemic diseases, which can make the diagnostic process all the more difficult. For this reason, the panel stressed that finding a medical professional who can take care of all the aspects (symptoms, genetics, familial history, medical history) of these types of patients is important, as is finding medical institutions that can take charge in assigning these patients to a diagnostician who they know can take all these aspects on a patient. Certified genetic counselors can greatly assist with this process and point patients in the direction of the right specialist.
To be mentioned that-NSGC promoted research, continuing education and professional development to genetic counselors through various sponsored fellowships and grant awards in 2018. NSGC also recognizes individual members every year for being outstanding volunteer contributors and dedicated such as:
Cystic Fibrosis Sig(Special Interest Group) Grant Award has offered 300$ award for a CF-related project.