HomeScienceGeneticsAddressing the shortage of genetic counselors with software

Addressing the shortage of genetic counselors with software

NORTHAMPTON, MA / ACCESSWIRE / Nov. 21, 2022 / illumination:

Almost everyone is a carrier of some hereditary disorder.1 (Probably even you.) Carrier status means you inherited an abnormal copy of a gene from one parent, but you don’t show any symptoms because you received a normal copy of that gene from your other parent. But if you reproduce with another carrier of the same condition, there is a 25% chance that your child will inherit two abnormal copies of the same gene and develop symptoms.

The most common of these “autosomal recessive conditions,” cystic fibrosis, is often fatal. In the United States, about 2,500 babies are born with it each year, and on average they don’t live past 30 years. About one in 20 Americans is an unaffected carrier who is at risk of passing the disease on to their children.2– and they usually have no idea.

Genetic screening can inform us about these possibilities. Future parents can test before conception and embryos produced by in vitro fertilization can be tested. Genetic screening has become more affordable over time, DNA sequencing and genotyping technologies are only getting faster and more efficient, but one bottleneck remains: a lack of genetic counselors who can interpret and teach the test results. Data presented in 2018 showed that the US had only one genetic counselor for every 81,700 people, and there are still fewer than 8,000 genetic counselors worldwide. Given the crucial role that carrier screening can play in health care, what can be done to address this shortfall?

If there aren’t enough human brains to do the job, a silicon one might help. Founded in 2016, Identify is a digital health company that has developed a platform that scales the genetic counseling process. The platform can digitally educate patients about the genetic test they will be undergoing, register patients and obtain their consent for screening, analyze their genomic data to identify those at risk, create lab reports, and for the majority of low-risk or test negative, the platform can generate personalized animated videos explaining individual results, eliminating the need to schedule and hold an in-person follow-up appointment with a genetic counselor.

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The Igentify platform is a configurable DNA-to-results genomic medicine workflow with components that benefit patients, labs, and genetic counselors. The personalized education and patient outcome videos it offers draw on a huge library of individual story components, created by Igentify’s in-house animators, to seamlessly adapt videos to each patient’s circumstances, in multiple languages. The three- to eight-minute shareable, re-watchable videos explain patient test results, including definitions and suggested next steps “all in plain language that I—or another patient—can understand, no super-technical terms,” ​​says Amanda Swiatocha, Igentify’s vice president of marketing.

Co-founder and CEO Dr. Doron Behar says Igentify’s platform can free up huge amounts of time by taking on tedious, repetitive tasks so that the human genetic counselors we have can focus on the patients most at risk. His goal is for the platform to become “the autonomous driver of the field of genomics”.

You might think the average person would rather have a face-to-face appointment than an automated video, but the company’s data shows otherwise. In a clinical study of 225 couples who requested preconception genetic screening, 94% of couples said they like receiving their results via video. And of the 165 couples who were found not to be carriers of the same abnormal gene, 156 had no need for face-to-face counselling.

“People are kind of busy,” Behar notes with a smile. “None of us have time to look at anything these days – even six minutes people tell me is too much. They want to know the answer really quickly. And a lot of people are afraid of the human interaction between patient and caregiver, which is natural a sacred principle of medicine. But we live in reality, and the reality is that healthcare providers have very limited time for each patient, and patients also have limited time.” Moreover, it doesn’t take any research to know that younger generations prefer to consume content digitally; videos can convey more information in less time by adding pictures and charts than a counselor could with words alone.

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

Each genetic disorder can be rare on its own, “but cumulatively we’re talking about one in 300 children being born with some kind of recessive genetic disorder,” explains Behar, “half of which (1 in 600) are severe. are the genes we’re trying to target.”

Of course, such technology can only help a couple if they know about it. And the key to public awareness, says Behar, are “campaigns, campaigns, campaigns.” The National Society of Genetic Counselors is leading on that front, spreading the word with efforts like Genetic Counselor Awareness Day on the second Thursday in November, when it hosts webinars, offers a media toolkit, and promotes other resources.

Behar began his career as an internal medicine and critical care physician, but went on to pursue his doctorate in population genetics and then a medical residency in genetics because, instead of 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 possible treatment modalities so they can make an informed decision.”

Illumina, Monday, November 21, 2022, photo press release

Image Source: Identify.

For more information about the Igentify platform, visit

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Click here to learn more about how Illumina is expanding access to genomics here.




Illumina, Monday, November 21, 2022, photo press release

Illumina, Monday, November 21, 2022, photo press release

See more multimedia and more ESG stories from Illumina at

Contact information:

Spokesman: Illumina

SOURCE: Illumina

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