November 9th is Genetic Counselor Awareness Day. Today, we recognize our amazing team and genetic counselors across the world for their countless contributions to providers, patients, and the research community. Genetic counselors play a critical role in the shifting healthcare landscape. They work directly with doctors, patients, and their families to help them understand genetic testing, guide them through the process, and help them make informed choices based on their results.
The role of genetic counselors has evolved over the years. Traditionally, a laboratory genetic counselor was “behind the scenes” using their expertise to ensure a requested test is patient-appropriate, interpreting the results, and compiling reports for providers. There was usually little or no direct patient contact. Today, Sema4’s genetic counselors and those at other labs are committed to open communication at all levels. “While the doctor is still at the center of the process, the goal at our diagnostic labs is to establish a direct line of communication with the patient,” explains Lama Elkhoury, MS, CGC, Sema4’s Director of Genetic Counseling Services. “Our team proactively calls patients with positive genetic testing results to explain the results and provide compassionate guidance on care options. Patients are also welcome to contact us directly with questions.” One area Lama’s team is currently involved with is counseling users of Sema4’s Expanded Carrier Screen, which tests prospective parents for more than 280 genetic diseases, and advising them about what their results could mean for their future children.
Genetic counselors are also serving as an increasingly valuable resource for physicians, educating them on genetic diseases, helping them select the most appropriate genetic tests and interpreting results. Given the rapidly growing complexity and applicability of genetic testing, that level of laboratory access is more important to physicians today than ever before. More and more non-genetic professionals, like cardiologists, pediatricians, and neurologists, are ordering genetic tests to help determine what role family history and background might play in a disease and its treatment for patients. Genetic testing is now expanding well beyond routine prenatal and oncologic risk assessments. “With the move to personalized medicine,” notes Lama, “completely healthy individuals are now deciding to take a peek at their genomes to see how they can promote healthier lifestyles.”
The ability of Sema4 and its team of highly-trained and experienced lab counselors to tangibly help this widening universe of consumers is what makes Lama particularly excited about the period ahead. “I’m a patient advocate above all else,” she declares, “and nothing gives me greater satisfaction at the end of the day than to see how everyone’s hard work positively impacts so many individuals.”
Over the course of just a few decades, we have become consumers and generators of a massive amount of digital data. From billions of search queries every day, to the growing number of gaming interactions around the globe, to countless videos streaming on our wired and mobile devices, the amount of data zooming across the internet this year alone will exceed one zettabyte. (That’s a 1 followed by 21 zeroes.) To give you a sense of the magnitude of this number, one zettabyte is equivalent to the amount of data that can be stored on 7.8 billion 128 gb iPhones or close to the number of stars in the universe.
This dramatic rise in the scale of our digital data is paralleled by rapid advances in information science, which has accelerated our ability to analyze these vast oceans of data. In both large and small ways, the insights derived from big data now influence our daily experiences—from how we book a flight or manage our finances, to the films and music we choose. Yet, while big data has already transformed life as we know it, this is just the very beginning.
As we look to the future of healthcare, health data at scale may hold the key to revolutionizing how we diagnose, treat, and prevent diseases. The vast wealth of health and personal data now available to us can give us greater insight into what constitutes disease—from the genes we are born with and the genetic makeup of the trillions of bacteria that inhabit our bodies, to our lifestyle habits and the myriad of environmental factors we encounter daily. We believe that, by sharing and analyzing this data, we can build better predictive models to guide how we approach and affect our health.
The launch of Sema4 is our next step in realizing this vision. Originating from the Icahn Institute for Genomics and Multiscale Biology and the Department of Genetics and Genomic Sciences at Mount Sinai, Sema4 is differentiated by a strong foundation of clinical expertise, world-class academic research, and pioneering information science. Our interdisciplinary team also brings diversity in both expertise and perspective to these efforts. From scientists, doctors, and genetic counselors, to engineers, designers, and bioinformaticians, the Sema4 team, itself, is a powerful network that is uniquely poised to drive innovation in this space.
Maybe you are starting your family and hoping for better health for your children. Perhaps you are facing a chronic illness and looking for answers. Or maybe you are a clinician invested in improving outcomes for your patients. For every one of us, harnessing health data can revolutionize how we define, understand, and create wellness. Our work at Sema4 is our commitment to making this possibility a reality. We believe that, together, we can channel the combined powers of science and technology to bring about meaningful change in our healthcare. Today, with the launch of Sema4, we are excited to start this journey toward a healthier future with you.
Eric Schadt, Ph.D.
Chief Executive Officer