Language matters, especially in genetic counseling. Today's challenges, plus four recommendations to make genetic counseling more accessible and...
The Why of Igentify [how genetic software can help superheroes]
Read about the inspiration for Igentify, why we started, and how we're improving genetic counseling.
In my free time, there are a few things I love to do, including spending time with my family, cultivating my wine cellar, and traveling with my camera, capturing the wonders and intricacies of nature.
I'm not sure when or why it began, but I have always noticed and admired differences in nature around me. Perhaps it grew out of the varied landscapes, people, and animals I saw growing up in Africa, Iran, and Israel. Even in animals that look almost the same (like these zebras I photographed below), there is so much beautiful diversity.
Source: Doron Behar, MD, PhD, personal photo
I fell in love with genetics and became a population geneticist because I’m fascinated by variations within our genes. In my work inside genetic labs, however, I noticed another kind of variation that was more frustrating than fascinating: Process and flow variation that led to delays, waste, and poor patient experience in genetic testing and genetic counseling.
A very brief history: In 1990, the Human Genome Project (HGP) began. Over the next 13 years, the HGP sequenced about 92% of the entire human genome, and in April 2022, the final 8% was described in 6 papers in the journal Science. From the end of the HGP in 2003 through today, the costs of genetic sequencing have dropped dramatically. At the same time, we’ve seen increasing individual interest in genetic testing.
However, while the industry was fast in eliminating the technological barriers associated with massive sequencing campaigns, there are fewer than 8,000 genetic counselors worldwide. Genetic counselors (GCs) are licensed professionals who:
- Provide genetic education
- Assess risk
- Facilitate decision-making around genetic testing
- Explain genetic test results
- Support patients
Even with predicted growth in this profession in the US, in many parts of the world, there is a severe shortage and limited access to GCs. For example, in India, a country with a population of ~1.32 billion, there are only ~80 GCs. GCs are critical – without them, healthcare providers will not be able to harness the power of genomic medicine to help detect and, if necessary, treat genetic conditions.
Without GCs, patients will not have trusted, credentialed professionals to answer questions and guide them on their genetic testing paths. I saw this happening with my colleagues who were working more and more yet could never see all the patients needing their help. And it’s clear they were facing a Herculean task: With a worldwide population of 7.7 billion, the patient load for each of our GCs would be astronomical (especially as most individuals need genetic testing/counseling more than once in their lifetimes.) We were asking our GCs to be superhuman, without the tools that any superhero would need.
The tool that our superhuman GCs needed was not armor, a fiery sword, or a transforming vehicle. What they needed was software that communicated with labs, patients, genetic counselors, and providers.
I knew from my experience as a geneticist that most individuals are not at risk, but I noticed that GCs were spending a lot of time educating, going over test options, gaining consent, and giving results to these “low-risk” patients. I saw clearly then that there was a need – a need that would grow even more urgent – to let GCs work at the top of their license where they can focus on patients who needed their expertise, instead of spending time on repetitive and rote tasks. I predicted that healthcare systems were always going to look for ways to make the care experience better, for more of the population, at less cost – in pursuit of the Institute for Healthcare Improvement (IHI) Triple Aim. To me, it was clear that we needed a new software product that could digitize and eliminate repetitive tasks in the genetic testing and genetic counseling journey, while providing a personalized patient experience.
I suspected that, by bringing together those deeply knowledgeable in genetics, healthcare, and software, we could build a digital genetic software platform that would streamline the genetic testing and counseling process, save costs, improve the patient experience, and give my GC colleagues time (and joy) back. So, in December 2016, that’s exactly what we did.
Earlier this summer, we were pleased to share at the European Society for Human Genetics conference the results from a pilot study that showed that our digital genetic engine saved 73% of counseling time.
We started Igentify in December 2016 with a mission to create actionable and accessible genomic data for all. Now six years later, in 2022, there is so much genetic information available, but it’s not yet organized in a way that is understandable and useable for clinicians and patients. I’m excited and determined to change the current state - to reduce variation and waste from within the process.
In my next blog post, I’ll cover the top three lessons I’ve learned since starting Igentify. Until then, I’m collecting stories about experiences (good, bad, and everything in between) with genetic testing. If you have one, please connect with me on LinkedIn or email firstname.lastname@example.org. And, if you’re interested in subscribing to our blog where we’ll share our thoughts and other news, please fill out the form below.