Original article: https://www.metrowestdailynews.com/news/20190307/sudbury-startup-aids-in-diagnosing-genetic-conditions
SUDBURY – With the average patient struggling to find a diagnosis for a genetic condition for several years, a Sudbury family is hoping they can shorten the journey.
ThinkGenetic, Inc., a startup that makes artificial intelligence-driven tools to aid genetic condition diagnosis, is in the midst of launching a new pilot project with Louisiana’s Lafayette General Health System.
With their tool, SymptomMatcher, ThinkGenetic will examine medical records, physician notes, and other materials to find patients who may be suffering from genetic hard-to-detect diseases.
“Our goal is to help those physicians who don’t have much genetic experience consider possible other diagnoses,” said Dawn Jacob, a genetic expert and co-founder of ThinkGenetic. “We’re not saying they’ve been misdiagnosed, but just that nobody’s put it together yet. And that’s okay, because if you haven’t studied genetics, how would you know?”
For now, the pilot program will focus on neurological conditions that are common in southern Louisiana, where many residents come from a common ancestor group due to migration from Nova Scotia. The new partnership with Lafayette comes after ThinkGenetic recently raised $1.5 million in funding.
Co-founder and CEO Dave Jacob first launched ThinkGenetic.com as an online tool to provide a genetic roadmap to patients in 2016, inspired by his own struggle to correctly identify his genetic disease. Like many others, he did not learn his childhood heart defect was related to an underlying genetic mutation — Cutis Laxa — until he learned he also had a life-threatening aortic aneurysm.
His daughters and Lincoln-Sudbury High graduates Dawn and Ruth O’Keefe helped bring their own expertise in genetics and marketing to bring ThinkGenetic to life.
“We ended up with a family business that never meant to be a family business,” said Dave Jacob. “It just fit.”
The website features medical information from experts about about 200 genetic diseases that are tested for in newborns, found in large genetic carriers, and are treatable conditions. With simple explanations and suggestions for next steps such as support groups, the website is specifically designed to minimize the stress of Googling symptoms.
Dave Jacob said the company is representative of a trend of artificial intelligence becoming more intertwined with healthcare. What sets ThinkGenetic apart, said Jacob, is that they are focusing on the majority of patients who are not aware they may have a genetic condition.
“We’re trying to educate the patients to get them far enough long to know to get into the system to get treated — they don’t even know. Everybody’s focusing on the 25 percent. We’re after the 75 percent,” said Dave Jacob.