Athletics and genetics
Personal Genetics Education Project (pgEd)
Harvard Medical School - Wu Laboratory
www.pged.org
Do Now
Answer the following questions:
Do you wish your parents had genetically tested
you as a child to see if there is a certain sport at
which you might excel or to see if you might have
a special gift for music? Why or why not?
What could be a benefit and what could be a
disadvantage to having genetic analysis of this
sort performed at an early age?
What can a genetic test for
“sports ability” tell us?
www.nytimes.com/2008/11/30/sports/30genetics.html
How do genetic testing and athletics
intersect?
• Genetic testing is being used to predict injury risk
and to detect medical conditions with the aim of
preventing harm to athletes
• Companies offer testing to help parents and
children use genetics as part of the puzzle in
deciding what sport to pursue.
• The role of genetic testing in sports presents a
number of personal and societal questions in
need of attention.
CARDIOMYOPATHY
Source: American Heart Association
SICKLE CELL TRAIT
How do we decide to
screen for conditions
that may put an
athlete’s health at risk?
How common or risky
does a trait need to be
before we screen
everyone?
Genes linked to
athletic performance and injury risk
• A common version of ACTN3, the so-called
“speed” gene, has been linked to sprinting
ability. Most elite sprinters have at least one
copy of this version.
• Preliminary studies have linked a common
version of the APOE gene, called APOE4, to
increased risk of severe effects from a
concussion.
• On-going research is exploring link between
variants in collagen-producing genes,
including COL5A1 and COL5A2, and increased
risk of Anterior Cruciate Ligament (ACL) tears.
Direct-to-consumer genetic testing for sports
• Companies are currently selling tests that
assess variants to try to predict a person’s risk
for sports injuries and athletic abilities.
• Target audiences are athletes of all ages,
parents, coaches and trainers.
• There is controversy about how predictive these
tests are and what else these tests may reveal
about a person’s health. For example, there is a
well-established link between APOE4 and an
increased risk for Alzheimer’s disease.
w
Image via NYT/Chang W. Lee
Ronald Martinez/Getty Images
What leads to
excellence in sports:
Genes? Environment?
Training? Drive?
Image via nhl.com
Why can US Olympian Jenny Finch strike out
top Major League Baseball players with a much slower
pitch than they typically hit?
http://azstarnet.com/gallery/sports/college/wildcats/photos-softball-pitcher-jennie-finch/collection
Michael Phelps and
Usain Bolt:
What has led them
to excel?
Photo via www.michaelphelps.net
Photo: Matt Dunham AP
The ACTN3 gene and its link to speed
• The gene, ACTN3, produces a protein that helps
fast-twitch muscle fibers to contract.
• There is a version of ACTN3 that has been linked
to sprinting ability.
• ~95% of elite sprinters have at least one copy of
this version of the gene.
• ~80% of people in the general population also
have at least one copy of this version.
Discussion questions:
• How effective might genetic analysis be in
predicting athletic performance?
• Should genetic analysis be used to screen
athletes for health conditions? Why or why not?
• From a scientific perspective, what are the most
important facts when examining the link between
athletic performance and genetics?
• What should a family consider when a child is
thinking about playing a contact sport? How can
genetic information both illuminate and complicate
how parents decide what is right for their children?