As the President of ThinkGenetic, I am responsible for ensuring the company makes steady progress toward our goals. I provide regular feedback on this progress to our board members, investors, and internal team. However, the end of the year provides a great opportunity to take a step back and reflect on the big picture and showcase all the impressive work that we have accomplished.

The 2017 Facts

In 2017, ThinkGenetic provided 200,000 actionable answers to questions about living with 260 genetic disorders to people from 170 countries. I am grateful to the hundreds of contributors that made this valuable service a reality. Our Advocacy Partner program, very popular in 2017, now includes nearly 40 advocacy groups or charities. While we accomplished a lot in 2017, our first full year on the web, most of the year was spent carefully laying the groundwork for even bigger things.

Expanding Our Mission with ThinkGenetic SymptomMatcher

At ThinkGenetic, we have a dual mission of helping both diagnosed and undiagnosed individuals living with a genetic disorder. When ThinkGenetic.com launched in June 2016, we started by focusing on individuals diagnosed with a genetic disease. We worked with scores of genetic counselors and our growing number of ThinkGenetic Advocacy Partners to craft meaningful answers to the questions that diagnosed individuals, and those that care about them, commonly ask as they move through life with a particular genetic disorder.

In December 2017, we took a major step toward helping undiagnosed individuals by releasing our ThinkGenetic SymptomMatcher^TM. SymptomMatcher is the first program available that allows people to determine if symptoms they are experiencing could be the result of a genetic disorder. We hope to empower undiagnosed individuals to have important conversations about their SymptomMatcher results with their doctors so – together – they can explore the possibilities.

Genetic counselors, medical geneticists, patients, machine learning experts and information scientists collaborated intensely on SymptomMatcher to create a groundbreaking new way using artificial intelligence (AI) to find patients with often extremely rare and complex genetic disorders. In the coming months, SymptomMatcher will be trained on all genetic disorders that currently have treatments available.

Looking Forward

This progress and promise helped ThinkGenetic become selected as a top digital health startup by PULSE@MassChallenge in 2017. We are honored to be part of the 2018 PULSE cohort, paired with Shire as our corporate champion. Generous investors also recognized ThinkGenetic’s efforts and mission. Nearly $1M in angel funding was raised, with more expected in early 2018.

After a year of building a strong reputation as a company committed to helping those living with a genetic disorder and building the technical foundation for a product that will shorten the time to accurately diagnose genetic diseases for many, we are ready to deliver on our promise to help undiagnosed individuals in 2018.