Population genetic screening shown to efficiently identify increased
risk for inherited disease

Date:
July 27, 2020
Source:
Desert Research Institute
Summary:
Researchers suggest that community-based genetic screening has
the potential to efficiently identify individuals who may be at
increased risk for three common inherited (CDC Tier 1) genetic
conditions known to cause several forms of cancer and increased
risk for heart disease or stroke.



FULL STORY ==========================================================================
In a new study published today in the journal Nature Medicine, researchers behind the Healthy Nevada Project(R) suggest that community-based genetic screening has the potential to efficiently identify individuals who may
be at increased risk for three common inherited genetic conditions known
to cause several forms of cancer and increased risk for heart disease
or stroke.


==========================================================================
In 2018, the Healthy Nevada Project(R) (the largest, community-based
population health study combining genetic, clinical, environmental
and social data) started notifying consenting study participants who
have certain genetic variants which predispose them to the Centers for
Disease Control and Prevention (CDC) Tier 1 genetic conditions. The
study focused on identifying carriers of these conditions, which include Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia, because they are the most common conditions and
early detection and treatment could significantly lower morbidity and mortality.

Initial results from almost 27,000 study participants showed that 90%
of carriers of the CDC Tier 1 genetic conditions were not previously
identified in a clinical setting. The authors conclude that population
genetic screening would identify at-risk carriers not identified during
routine care.

"Our first goal was to deliver actionable health data back to the
participants of the study and understand whether or not broad population screening of CDC Tier 1 genomic conditions was a practical tool to
identify at-risk individuals," explained Joseph Grzymski, Ph.D., the
principal investigator of the Healthy Nevada Project(R), a research
professor at the Desert Research Institute (DRI), chief scientific
officer for Renown Health and lead author of the study.

"Now, two years into doing that, it is clear that the clinical guidelines
for detecting risk in individuals are too narrow and miss too many at
risk individuals." Within the group of 26,906 Healthy Nevada Project(R) participants that Grzymski's research team studied, 358 (1.33%) were
carriers for CDC Tier 1 conditions. However, only 25% of those individuals
met clinical guidelines for genetic screening. Additionally, more than
20% of the carriers already had a diagnosis of disease relevant to their underlying genetic condition.

"We're at a point now where it's possible to do clinical-grade genetic screening at population-scale," added James Lu, M.D. Ph.D., co-founder and chief scientific officer of Helix and senior co-author of the study. "What
this study demonstrates is the potential impact of doing so. By making
genetic screening available more broadly, we can help the millions of
Americans who are unaware that they are living at increased risk for
highly actionable, genetic conditions take action." Most notably,
the study found that of the 273 participants who were carriers of the
CDC Tier 1 genetic conditions and had clinical record information,
only 22 individuals showed any previous suspicion of their underlying
genetic conditions.

"For the first time, we are providing information at the individual level
so study participants can make lifesaving changes to reduce their risk
based on their genetics," said Anthony Slonim, M.D., Dr.PH., FACHE,
president and CEO of Renown Health and co-director of the Project(R)
study. "We're conducting research on the community level to develop leading-edge research on health determinants for entire neighborhoods,
states and eventually, the country.

Returning these results allows us to understand the prevalence of
genetically programmed diseases and illnesses that we have here in Nevada
and ensure we are providing the best prevention and care plans. For the individual, the return of results can be lifechanging." According to the
CDC, early detection and intervention of the Tier 1 genetic conditions
could have a meaningful potential for clinical actionability and a
positive impact on public health.

The Healthy Nevada Project(R), which launched in 2016, offers free
genetic testing to every Nevadan, aged 18 and older, interested in
learning more about their health and genetic profile. With more than
50,000 study participants enrolled in four years, the Healthy Nevada
Project(R) has become the fastest- enrolling genetic study in the world.


========================================================================== Story Source: Materials provided by Desert_Research_Institute. Note:
Content may be edited for style and length.


========================================================================== Journal Reference:
1. J. J. Grzymski, G. Elhanan, J. A. Morales Rosado, E. Smith, K. A.

Schlauch, R. Read, C. Rowan, N. Slotnick, S. Dabe, W. J. Metcalf, B.

Lipp, H. Reed, L. Sharma, E. Levin, J. Kao, M. Rashkin, J. Bowes, K.

Dunaway, A. Slonim, N. Washington, M. Ferber, A. Bolze, J. T. Lu.

Population genetic screening efficiently identifies carriers
of autosomal dominant diseases. Nature Medicine, 2020; DOI:
10.1038/s41591-020-0982-5 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2020/07/200727114737.htm

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