Meet ThinkGenetic. A Pioneer In Educating Patients With Rare Genetic Diseases
Did you know that 75% of people with rare genetic diseases are undiagnosed? And once they are diagnosed, it can be very difficult to find good information to learn about their disease? .
ThinkGenetic Inc. ((https://www.thinkgenetic.com/) was founded to close this informational gap and is now the largest online tool and resource for empowering patients with rare genetic diseases.
Dave Jacob (2nd row left), Dawn Jacob Laney (2nd row right) and Ruth O’Keefe (4th row right)
I had an opportunity to speak to the founders and leadership family of ThinkGenetic, Dave Jacob (Founder and CEO), Dawn Jacob Laney (Founder, Genetic Counselor and daughter of Dave Jacob) and Ruth O’Keefe (Vice President, Marketing and Patient Advocacy and daughter of Dave Jacob) to learn more about what they do and how ThinkGenetic and its partner organization, ThinkGenetic Foundation, helps families dealing with rare genetic diseases.
Dave Jacob also happens to be the cousin of one of our Books That Heal authors, Nathan Grogan, author of Nathan Strong.
ThinkGenetic: The Search For Answers
Dawn Jacob, a founder of ThinkGenetic, certified genetic counselor and recognized leader in genetics education shares, “It’s really quite the story. Dad was born with a congenital heart condition called patent ductus arteriosus (a heart problem in which the connection between the aorta and pulmonary artery remains open after birth, instead of closing as expected) that required experimental surgery when he went into congestive heart failure at age 4. A year after his surgery, the family had another surprise when his middle sister was born with the same thing and required the same repair. Things went pretty well after the surgeries, even though the experience itself was pretty traumatic as pediatric care wasn’t around to help children receiving these procedures.
However, at age 60 an X-ray for pneumonia found that he had a very large aortic aneurysm, an abnormal bulge in the wall of the heart’s major blood vessel. Once again, when they looked, his sister had the same issue. These familial similarities led him on a quest to find the underlying reason he and his sister were having these heart issues. After an exome as a Christmas present, a reanalysis of that exome three years later, and a slew of other tests, he (and his sister) were diagnosed with a rare genetic disease of the connective tissue, Cutis Laxa. He was very excited to find the answer, but then found that information about the condition for him to learn about Cutis Laxa and best practices was very limited and couldn’t satisfy his need to really understand the impact of the disease on him and his family.”
Dave Jacob, founder and CEO, joins in then to explain how that medical odyssey and quest for information about Cutis Laxa led to this modern family business “For years, I have built businesses in Internet Technology and when IBM asked for proposals for Watson Health Technologies, it seemed like the perfect opportunity to address what I experienced first hand with a rare genetic disease: lack of patient friendly information about living with a genetic condition. We created ThinkGenetic as a way to empower patients and offer a new approach for closing the diagnosis gap in rare genetic diseases. It was personal to me and my family because we were frustrated by how long it took to get answers.”
ThinkGenetic Empowers Patients
What’s exceptional about ThinkGenetic is that it is now the leading, entirely free resource for patients and their families, helping patients better understand how to live with a genetic condition, directing them to useful resources, and helping them explore possible genetic causes of their underlying medical issues . It empowers patients by providing real-life answers to their questions about living with a genetic disease and helps patients understand what questions to ask doctors to improve their own medical care.
ThinkGenetic also introduced the ThinkGenetic Foundation (http://thinkgenetic.org/) in 2016, a nonprofit with the mission of raising awareness of genetic conditions through practical educational information about diagnosis and living with genetic diseases. This includes creation and distribution of rich educational content about genetic conditions in a wide variety of ways including in-person seminars, online webinars, durable education materials and even children's books.
As a genetic counselor, Dawn Laney Jacob works with patients and their families to help them understand the diagnosis. Dawn explains “Parents would ask for something to help them explain the diagnosis to their 5-year old.” I started creating these books not only to ease the patient into the diagnosis, these are a tool for explaining the diagnosis to the whole family. Most of my books come from requests by patients; books like “My Brother, MPS and Me!” which was created to help families talk about a rare genetic disease and its impact on a child’s brother.
You can find these terrific books on Amazon (https://www.amazon.com/s?k=dawn+laney&i=stripbooks&ref=nb_sb_noss). ThinkGenetic Foundation sells the books on its own website, but sometimes will also show up at patient support meetings to hand them out to children for free.
In addition to childrens’ books, Dawn and her co-authors have created materials for teens transitioning to adulthood in order to help them plan for life with a genetic condition. Patients at age 18 start to take over their own care from their parents, making their own appointments and working with doctors to manage their own care. It’s a big change and they need guidance and support along the way.
Ruth O’Keefe, VP of Marketing for ThinkGenetic shares how ThinkGenetic impacts patients’ lives and helps transform their healthcare. “We continue to look for ways to reach people who have rare genetic diseases. Today, ThinkGenetic.com has almost 13,000 users every month covering 194 countries and has information on 254 genetic conditions.”
“We also have a Symptom Matcher, https://www.thinkgenetic.com/SymptomMatcher/ on the site which allows anyone to enter information about you, your health, symptoms you are experiencing and ThinkGenetic matches potential genetic diseases that explain some or all of your symptoms.”
“Most of our users are parents looking for more insight into their health so they can plan and improve their own care. They are looking for practical information they know they can trust.”
Julie G. ~ Parent and Healthcare Provider
"My husband and I recently had a huge panel of genetic tests done and found out that we're both carriers for cystic fibrosis! I am blown away about how much important information is now at our fingertips through ThinkGenetic.com and how it can help us make crucial life decisions about our family." - Julie G.
For any parent or family member, even if you don’t have a chronic health issue, the message behind ThinkGenetic is still applicable. With information about your health, you learn that there are different ways to accomplish your goals. Even if you have limitations where you are not able to do the same things anymore, you can do them differently. With information, you can have a better quality of life.
ThinkGenetic also has created a platform to amplify the voices of those not heard very often and by working directly with the doctors and medical organizations, they are transforming healthcare.
To learn more about ThinkGenetic, go to their website: https://www.thinkgenetic.com/ and connect with them on
Facebook: https://www.facebook.com/GPSforGenetics/ and