For nearly twenty years, genetic counselor Dawn Jacob Laney, MS, CGC, CCRC, has scoured the internet for information related to her passion – genetic diseases and disorders. Her first foray into the territory was a genetic counseling master’s thesis “Resourceful patients : genetic counselors, patients, & the Internet” in 1999 at Sarah Lawrence College in Bronxville, NY. Laney uncovered a disconnect between the information patients and families want about genetic conditions and the information that is available. Even though technology and information has greatly improved in availability and depth since 1999, accurate, personalized answers to questions about daily living with a genetic disease can be hard to find.
According to the Global Genes Project, approximately 350 million people worldwide suffer from rare diseases, 80 percent of which are genetic. In the United States alone, 30 million people — or one in 10 Americans — live with a rare disease. (The U.S. considers a disease “rare” if it affects fewer than 200,000 people, but international definitions vary.) Their stories, documented via blogs, foundations, patient support and advocacy groups, are frustrating, and heartbreaking.
Her academic interest became personal when Laney began seeking better answers for her family related to a then-undiagnosed genetic condition causing congenital heart defects, connective tissue issues, and aortic aneurysms. Laney was uniquely suited to find such answers, as a board certified genetic counselor, researcher, instructor and Director of the Emory Genetic Clinical Trial Center at Emory University.
When asked about her work Laney said, “I routinely see patients who spend years seeking a reason or diagnosis for their health problems. A referral to an experienced genetic counselor and medical geneticist would help these folks immensely, but the average person doesn’t even know that their complex medical condition could have a genetic component. If they do know about a possible genetic cause, they often don’t know where to go to talk to a genetic professional.”
Enter ThinkGenetic, a cutting-edge way to empower and provide resources to patients who want to obtain personalized, interactive answers to their questions about the impact of their confirmed of possible genetic diagnosis. ThinkGenetic is a website and mobile app that taps into IBM Watson’s cognitive technology to help people understand what questions to ask doctors in order to improve their medical care and how to find resources to help them such as support groups and genetic professionals.
“Since Watson only knows the genetic information we ‘feed’ it, we have been working with many, many genetic healthcare professionals and disease experts worldwide to write updated information for it to digest,” Laney said. “We have also reached out to the patient advocacy and support group community to join us in our quest to ‘fix information on the internet.’”
ThinkGenetic isn’t just for people who might have genetic disorders. The platform also helps medical professionals learn more about genetic disorders, and helps raise awareness of resources like genetic counseling, genetic disease camps, and available treatments.
ThinkGenetic President, Len Barker expands upon Laney’s comments saying, “Most of these genetic diseases are so rare that it is unlikely a standard medical professional has ever seen a patient affected by them. So, we designed a disease finder to help patients generate a small list of diseases that may be causing their symptoms. Patients can print information on each disease to share with their doctors to review and consider for possible genetic causes of their health problems.”
ThinkGenetic is joined by several collaborators including IBM, Davalen, LLC, Emory University, the National Fabry Disease Foundation, Fabry Support and Information Group, Genetic Alliance, C22C, Huntington’s Disease Society of America and many other patient advocacy organizations. In addition, ThinkGenetic has enlisted a team of genetic counselors to help train the site on correct and current genetic information and is starting its next round of recruitment at the this weeks 35th Annual Education Conference by the National Society of Genetic Counselors in Seattle.
The ThinkGenetic team — based in Boston, Atlanta and Charlottesville, Virginia — comprises Information Technology (IT) staff, pharmacists, physicians, genetic counselors, and medical writers. The medical team makes sure each answer is technically accurate and that a version of the answer exists for both the general public and medical professionals, while the IT staff ensures users are guided to the right knowledge in a manner similar to what they would get if they sat down with a real human.
“This is a group of people that lives to help their patients,” Barker said. “I talk to them everyday and they provide constant motivation to make our product even better.”
ThinkGenetic made its public debut online with a limited release for usability this past summer and continues developing as users interact with it.