Like for many of you, 2020 was well… just plain weird. The word “unprecedented” has become a theme we can all relate to. We could go into great detail about the effects on all our lives, which should not be taken lightly, but that’s not what this article is about. Now that 2021 has arrived, we have been given pause to look back and reflect on all there is to celebrate. And it turns out, there were quite a few advances as well as trends we’d like to recognize as they shape genetic discovery for 2021 and beyond.

Here are three trends we think you should know about.

Trend No. 1: The pandemic is breaking down some barriers to genetic testing for cancer.

When patients with cancer were discovered to be at higher risk for contracting the coronavirus, some physicians began exploring the use of “liquid biopsy” as an alternative to invasive tumor biopsy. This method uses blood plasma samples to analyze circulating cell-free DNA  to detect certain cancers, monitor disease progression, identify the drivers of malignancy, or select targeted therapies. In 2020, we saw increased use of liquid biopsies to detect and determine treatment options for ovarian cancer, non-small-cell lung cancer, colon cancer, and more. 

Yet even as the FDA has expanded approved use cases for liquid biopsies, access to genetic counseling for consumers and genetic decision-making support for providers remains limited. The U.S. Department of Labor projects demand for genetic counselors will soar 27% from 2018 to 2028, but hospitals and clinics do not have enough training spots to give students the clinical experience they need. Now in 2021, as the introduction of the COVID-19 vaccine begins to pave the way for a return to elective care for many consumers, making sure that genetic counseling is part of the decision-making and results interpretation process will ensure best-practice care for patients.

Trend No. 2: Research around neurodegenerative disease is accelerating.
genetic trends

Interest in the role of genetics in neurodegenerative diseases is rising, especially for conditions such as Alzheimer’s disease, Parkinson’s disease and frontotemporal dementia, and we’re seeing more funding devoted to clinical trials for these diseases. In the past year alone, the National Institutes of Health (NIH) increased funding for Alzheimer’s and dementia research by $350 million, reflecting a continued trend toward higher funding for research in these areas. It’s a precedent not seen since “The War on Cancer” in 1971 and the ramp-up in AIDS funding in the 1980s. Meanwhile, the Aligning Science Across Parkinson’s (ASAP) initiative announced $161 million in funding for Parkinson’s disease research.

The momentum in neurodegenerative research is exciting:

But there are also ethical and communication challenges around genetic testing for neurodegenerative disease, including obtaining true informed consent, communicating risk, and weighing the benefits-vs.-psychosocial harms of genetic testing. In 2021, healthcare providers must keep these risks top of mind in exploring options for genetic testing with patients and their families. Here, too, involving genetics experts as part of the patient care team supports a highly informative, highly compassionate approach.

Trend No. 3: Diversity is increasing in clinical research trials for gene therapies.

There are numerous factors that influence who gets genetic testing, what types of genetic testing they receive, and who gets opportunities to participate in clinical trials. In 2020, the FDA worked to advance clinical trial diversity by providing recommendations around ways to design and execute clinical trials that will ensure people of varying sex, race, ethnicity, age, and location as well as individuals with comorbid health conditions and at varying weight ranges. FDA guidance also included recommendations for ensuring specific populations gain access to clinical trials.

We’re also seeing growth in decentralized trials, particularly influenced by the current pandemic. This change likely will lead to telemedicine services playing a larger role in clinical trials going forward, increasing access for people in varying geographies, not just those with access to academic medical centers.

These are important steps in the right direction. As the FDA states, the ability to develop safe and effective treatments depends on increasing enrollment of diverse populations in clinical trials. We look forward to accelerated progress in this area throughout 2021.

Anticipation and Celebration

Even amid barriers to clinical research and in-person primary care during the pandemic, exciting advancements continued to take place, and consumer interest in genetics remained strong, with patients continuing to “do their homework” online regarding genetic risks and concerns. In 2021, our hope is that new efforts in genetic research and development of therapies are paired with the increased availability of genetics expertise—for providers, health plans, and patients—so that the right genetic testing and therapy decisions are made for the right patients at the right time.

If you’d like to learn more about InformedDNA and the expert genetics services we offer for health planshealth systems and hospitals, or pharmaceutical companies, please get in touch – just fill out the short form below, or give us a call: 844-846-3763.


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