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Igentify’s digital platform helps identify genetic disorders before symptoms manifest


Igentify’s software genetic engine can help people screen people for hundreds of autosomal recessive disorders.

Igentify’s digital platform helps identify genetic disorders before symptoms manifest
Almost everyone is a carrier for a genetic disorder. 1 (Probably even you) (Probably even you.) Being a carrier means you inherited an abnormal copy of a gene from one parent but have no symptoms because your other parent inherited a normal copy of that gene. If you reproduce with another carrier of the same disorder, your child has a 25% chance of inheriting two abnormal copies of the same gene and developing symptoms.

Cystic fibrosis, the most common of these "autosomal recessive disorders," is frequently fatal. Every year, approximately 2500 babies are born with it in the United States, and on average, they do not live past the age of 30. One in every twenty Americans is an unaffected carrier who risks passing the disease on to their children2—and they usually aren't aware of it.

These possibilities can be discovered through genetic testing. Prospective parents can test before getting pregnant, and embryos created through in vitro fertilization can be tested as well. Genetic screening has become more affordable over time, and DNA sequencing and genotyping technologies are becoming faster and more efficient, but one bottleneck persists: a shortage of genetic counsellors who can interpret and educate on test results. According to data presented in 2018, the United States had one genetic counsellor for every 81,700 people, and there are still fewer than 8000 genetic counsellors worldwide. What can be done to address this shortage, given the critical role that carrier screening can play in health care?

If there aren't enough human brains to go around, perhaps a silicon brain could help. Igentify, a digital health company founded in 2016, has developed a platform that scales the genetic counselling process. The platform can digitally educate patients about the genetic test they'll receive, register patients and obtain their consent for screening, analyze their genomic data to identify those at risk, generate lab reports, and for the majority of patients who are low-risk or test negative, the platform can generate personalized animated videos explaining individual results, eliminating the need for a face-to-face follow-up appointment with a genetic counsellor.

The Igentify platform is a DNA-to-results genomic medicine workflow that can be customized to benefit patients, labs, and genetic counsellors. Its personalized education and patient result videos draw from a vast library of individual story components created by Igentify's own animators, allowing it to seamlessly tailor videos to each patient's circumstances in multiple languages. According to Amanda Swiatocha, Igentify's vice president of marketing, the shareable, rewatchable three-to-eight-minute videos explain the patient's test results, including definitions and suggested next steps "all in regular language I—or any patient—can understand, not super-technical terms."

Igentify's platform, according to Co-Founder and CEO Dr. Doron Behar, could free up vast amounts of time by absorbing tedious, repetitive tasks, allowing the human genetic counsellors we do have to focus on the patients who are most at risk. His goal is for the platform to be "the autonomous driving of genomics."

One would think that the average person would prefer a face-to-face appointment over an automated video, but the company's data show otherwise. A clinical study of 225 couples who requested preconception genetic screening found that 94% were comfortable receiving their results via video. In addition, 156 of the 165 couples who were found not to be carriers of the same abnormal gene did not require face-to-face counselling.

“People are quite busy,” said Behar.

“None of us today has time to look at something—even six minutes people tell me is too much. They want to know the answer very fast. And many people are afraid of the human interaction between patient and provider, which, of course, is a holy principle of medicine. But we live in reality, and the reality is, health care providers have very limited time for each patient, and patients have limited time, too.” Plus, it doesn’t take a research study to know that younger generations prefer to consume content digitally; videos can communicate more information in less time by including graphics and charts than a counselor could through words alone.

Igentify will interpret the results of the Illumina Global Diversity Array with Carrier Screening Content v2 (for research purposes only), a single product that screens for 600 different autosomal recessive disorders. It has a low residual risk for key disorders and a high detection rate for both structural and sequence variants.

Any given genetic condition may be rare on its own, “but cumulatively we’re speaking about one in 300 kids being born with some kind of recessive genetic disorder,” Behar went on to explain, “half of which (1 in 600) are severe. These are the genes we’re trying to target.”

Technology such as this can definitely help with increased awareness of the available solution. The key to public awareness according to Behar is “campaigns, campaigns, campaigns.”

The National Society of Genetic Counselors is leading on that front and is spreading the word with efforts like Genetic Counselor Awareness Day  wherein it hosts webinars, offers a media tool kit, and promotes other resources.

Behar started his career as an internal medicine and critical care physician, but pursued his PhD in population genetics and then a medical residency in genetics because rather than treating the sick, he says, “I want to treat the healthy population. Why? Prevention. Prevention is the best treatment. The most important thing, for me, is to have actionable information early enough to give a couple all the potential treatment modalities, so they can make an informed decision.”

To know more on about the Igentify platform, click here .