AACC 2019: Direct-to-Consumer Genetic Testing, Precision Medicine, and Breast Cancer Treatment

Jill Hagenkord talks about Consumer Genomics, Direct to Consumer Genetic Testing and Patient Empowerment during a session of the AACC on Sunday, August 4, 2019.

During the 71st annual meeting of the American Association for Clinical Chemistry (AACC), held August 4 – 8, 2019, in Anaheim, California, medical professionals and healthcare leaders from around the world gathered to listen to featured pioneering advances in medical testing designed to will help patients get the right diagnoses and the care they need.

Among the highlights were five plenary talks presented by life sciences visionaries on accelerating the development of new medical tests, the genetic basis of human behavior, tailored breast cancer therapies, the future of precision medicine, and extremely rapid molecular diagnostics.

A special session on direct-to-consumer genetic testing delivered expert insight into how consumer genetic tests fit into the current healthcare paradigm. This session tackled everything from the differences among consumer testing options to the regulations that can either speed up or slow down their proliferation.

Direct-to-consumer genetic testing
The popularity of consumer genetic testing is rising exponentially, with as many people buying these tests in 2018 as in all previous years combined. During a special session researchers shed light on the little-understood nuances of direct-to-consumer genetic tests, with a focus on how healthcare professionals can enable patients to benefit from these tests while also raising public awareness about their limitations.

Precision medicine
Precision medicine is the practice of tailoring treatment based on the results of genetic and other tests that identify which interventions patients will respond to best. In theory, this approach could revolutionize healthcare, but in practice, the medical community has struggled to implement it in a widespread manner. In a keynote presentation David R. Walt, Ph.D, of Harvard Medical School, spoke about how to solve one of the biggest challenges holding precision medicine back: the difficulty of translating promising research discoveries into tests and treatments that impact patient health.

Exhibition booth of Clinical and Laboratory Standards Institute (CLSI) one of the organizations attending the annual meeting of the AACC.

Virginia Kaklamani, MD, DSc, of the University of Texas Health San Antonio MD Anderson Cancer Center, discussed how precision medicine identifies breast cancer patients who will respond to targeted therapeutics—including those unlikely to respond to chemotherapy, thereby helping them to avoid this toxic treatment.

Lastly, Euan Ashley, MB ChB, DPhil, of the Stanford Center for Inherited Cardiovascular Diseases, highlighted new genomic sequencing technologies that could drive precision medicine forward, while also exploring precision medicine’s likely near-term uses—such as in solving the mystery of unidentifiable diseases.

The genetics of human behavior
In another plenary session, Julie Korenberg, MD, PhD, of the Center for Integrated Neuroscience and Human Behavior at the University of Utah, explained how genetic mutations lead to changes in brain circuitry that cause cognitive deficits. Understanding this could lead to medications for developmental disorders such as Down and Williams syndrome, while also elucidating the underpinnings of human behavior.

Emerging technology
It is critical to understand marijuana’s effects on driving performance now that numerous states have legalized recreational and medicinal use of this drug. A late-breaking session will discuss how mass spectrometry is helping to shed light on this issue, along with other groundbreaking applications of this up-and-coming diagnostic technology.

In the closing keynote, Carl Wittwer, MD, Ph.D, of the University of Utah, explored extremely rapid molecular diagnostics that provide answers within seconds, and that could enable immediate diagnosis and treatment for a broad range of conditions.

“Laboratory medicine has been undergoing a transformation that is not only improving patient care, but also empowering patients to take a more active role in their health,” noted Janet B. Kreizman, the Chief Executive Office of the AACC.

“Advancements in genetic analysis have led to a better understanding of numerous conditions, which in turn is leading to more effective treatments. New paradigms such as direct-to-consumer testing are enabling patients to work more closely with clinicians on medical decisions. This year’s AACC Annual Scientific Meeting showcased these exciting areas of progress, and I look forward to seeing what next year’s meeting will bring.”