DELPHINE LEEhttp://www.sciencenews.org | March 13, 2021 25world and Latino people from Mexico versus the Caribbean or
Central or South America.
Researchers have made efforts to boost diversity among
participants in genetic studies, but there is still a long way to go.
How to involve more people of diverse backgrounds — which
goes beyond race and ethnicity to include geographic, social
and economic diversity — in genetic research is fraught with
thorny ethical questions.
To bring the public into the conversation, Science News
posed some core questions to readers who watched a short
video of Hilliard explaining her views.
Again and again, respondents to our unscientific survey said
that genetic research is important for improving medical care.
But our mostly white respondents had mixed feelings about
whether the solution is customized projects such as Hilliard
proposes or a more generalized effort to add variants to the
existing human reference genome. Many people were con-
cerned that pointing out genetic differences may reinforce
mistaken concepts of racial inferiority and superiority, and
lead to more discrimination.Why is genetics so white?
Some of our readers asked how genetic research got to this
state in the first place. Why is genetic research so white and
what do we do about it?
Let’s start with the project that makes precision medicine
even a possibility: the Human Genome Project, which pro-
duced the human reference genome, a sort of master blueprint
of the genetic makeup of humans. The reference genome was
built initially from the DNA of people who answered an ad in
the Buffalo News in 1997.Although many people think the reference genome is mostly
white, it’s not, says Valerie Schneider, a staff scientist at the
U.S. National Library of Medicine and a member of the Genome
Reference Consortium, the group charged with maintaining
the reference genome. The database is a mishmash of more
than 60 people’s DNA.
An African American man, dubbed RP11, contributed
70 percent of the DNA in the reference genome. About half
of his DNA was inherited from European ancestors, and half
from ancestors from sub-Saharan Africa. Another 10 peo-
ple, including at least one East Asian person and seven of
European descent, together contributed about 23 percent of
the DNA. And more than 50 people’s DNA is represented in the
remaining 7 percent of the reference, Schneider says. Informa-
tion about the racial and ethnic backgrounds of most of the
contributors is unknown, she says.
All humans have basically the same DNA. Any two people are
99.9 percent genetically identical. That’s why having a reference
genome makes sense. But the 0.1 percent difference between
individuals — all the spelling variations, typos, insertions and
deletions sprinkled throughout the text of the human instruc-
tion book — contributes to differences in health and disease.
Much of what is known about how that 0.1 percent genetic
difference affects health comes from a type of research called
genome-wide association studies, or GWAS. In such studies,
scientists compare DNA from people with a particular disease
with DNA from those who don’t have the disease. The aim is
to uncover common genetic variants that might explain why
one person is susceptible to that illness while another isn’t.
In 2018, people of European ancestry made up more than
78 percent of GWAS participants, researchers reported in CellBuilding an
Inclusive Genome
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