The Scientists in Harvard
Medical School says that their new test, giving a 'polygenic risk
score', would be the earliest predictor ever. It could be given at birth
to spot risk of cancer, heart disease and diabetes.
'We have
known for a long very time that there are more people out there at higher risk for
disease based just on their overall genetic variation,' lead
author Sekar Kathiresan, a professor of medicine at Harvard, said.
'Now
we're able to measure that risk using genomic data in a meaningful way.
From a public health perspective, we need to identify these higher-risk
segments of the population so we can provide appropriate care.'
Dr
Kathiresan's team used data from more than 400,000 individuals in the
UK Biobank that holds genomic and medical information from participants
of British ancestry.
Of the British
participants, eight percent had three times the average risk of
developing coronary artery disease, but did not yet show symptoms.
For breast cancer the polygenic predictor found 1.5 percent had more than triple the risk for the disease.
The
researchers applied a similar approach to polygenic risk scoring for
type 2 diabetes, a life-threatening heartbeat problem called atrial
fibrillation and inflammatory bowel disease.
The findings suggest up to 25
million people in the US alone may be at more than triple the normal
risk for coronary artery disease, despite not showing symptoms.
Millions
more may be at similarly higher risk for other conditions - just
because of genetic variations that, until now, have been nearly
impossible to spot in advance.
'Ultimately this is a new type of genetic risk factor,' Dr Kathiresan said.
'We
envision polygenic risk scores as a way to identify people at high or
low risk for a disease - perhaps as early as birth - and then use that
information to target interventions - either lifestyle modifications or
treatments - to prevent disease.
'For
heart attack, I foresee each patient will have the opportunity to know
his or her polygenic risk number in the near future - similar to ways
they can know their cholesterol number right now.'
For
each disease, Dr Kathiresan's researchers applied a computational
algorithm to combine information from all of the mutations - most of
which have an extremely small impact on their own.
This
converted them into a single number or polygenic risk score.
This
number could be used to predict a person's chances of getting these
diseases based on his or her genome.
Importantly
those with bigger scores for coronary artery disease did not
necessarily exhibit other warning signs - such as high blood pressure or
cholesterol.
Lab member Dr Amit Khera
said: 'These individuals - who are at several times the normal risk for
having a heart attack just because of the additive effects of many
variations - are mostly flying under the radar.
'If they came into my clinical practice, I wouldn't be able to pick them out as high risk with our standard metrics.
'There's
a real need to identify these cases so we can target screening and
treatments more effectively, and this approach gives us a potential way
forward.'
In coronary artery disease
alone the algorithm pored over more than 6.6 million locations in the
genome to estimate a person's risk of developing the deadly disease.
This which is the most common type of heart disease and a leading cause of death for adults in the US - as well as the UK.
The
researchers hope the technique will be used in the clinic for diseases
with a genetic component. It could become part of routine care.
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