Lack of reliability, privacy plague DTC genetic tests for newborns
AlysonSulaski Wyckoff, Associate Editor
When families occasionally ask Angela Scheuerle, M.D., FACMG, FAAP, if they should
order direct-to-consumer (DTC) genetic newborn screening, she gets on her soapbox,
describing it as “genetic astrology.”
She doesn’t remember who coined the phrase, but it gets the point across: “No one
should be making any medical decisions based on the currently available DTC genetic
testing,” said Dr. Scheuerle, a former member of the AAP Council on Genetics Executive
The number of companies offering various forms of DTC genetic testing is growing rapidly.
The global DTC genetic health testing market, worth $99 million in 2017, is expected
to reach $310 million in 2022, according to Kalorama Information (http://bit.ly/2yaZIO2).
Some parents find the pitches compelling. Companies may say they screen for more than
100 diseases or disorders, while mandatory newborn screening might test for dozens.
Without having to involve their pediatrician, parents can order a kit online for hundreds
of dollars or more. A simple cheek swab of their child can start the process.
AAP policy opposes DTC genetic tests
This year, the Academy reaffirmed a 2013 policy statement issued with the American
College of Medical Genetics and Genomics that states the organizations “strongly discourage
the use of direct-to-consumer and home kit genetic testing of children because of
the lack of oversight on test content, accuracy, and interpretation” (http://bit.ly/2xRLemU).
“There are several reasons why we were against it,” recalls Lainie Friedman Ross,
M.D., Ph.D., FAAP, lead author of the policy and a companion technical report (https://go.nature.com/2RlAYex). “We don’t have treatment that needs to start in childhood for most of these conditions
that would reduce risk or harms.”
Another concern cited by Dr. Ross is the ethical issue of revealing children’s risk
factors that will not present until adulthood to their parents without their permission.
This removes the right of these children, as adults, to have privacy regarding their
Furthermore, when a DTC company collects a sample, it owns it indefinitely or can
“So, in a sense you’ve taken away this child’s right to privacy,” said Dr. Ross, a
professor and medical ethics expert at University of Chicago. She has served on the
AAP Committee and Section on Bioethics.
“Not all adults want to know their risk factors. But if parents order such testing,
then children as adults don’t have the right not to know,” she said. “Or they might have the right not to know because their parents
might not tell them, and that’s even more problematic.”
Discrimination based on genetic “results” also is a concern. While the Genetic Information
Nondiscrimination Act protects against discrimination in employment and health insurance,
it does not protect individuals when it comes to life, disability or long-term care
Accuracy is a problem, as well. DTC companies typically test for only the most common
variants of a disease while there could be many more that are important. False negatives
and false positives each carry their own risks and consequences.
Some labs may not be accredited. In addition, there is no federal oversight of the
clinical validity of most genetic tests.
The technical hurdle is concerning to Tracy L. Trotter, M.D., FAAP, co-chair of the
AAP Council on Genetics Executive Committee. He said labs doing the testing can vary
“Some of them use mutation A to look at the risk for heart disease or something. Some
look at mutation B, some A plus B — and until you really get into that … you don’t
really know what you’re getting,” he said. “I just think the overall inability for
us to vet and control quality, accuracy and validity of any of these tests makes me
What’s more, the field changes rapidly.
“Unless the parents keep going back and checking, they may actually have wrong information,”
Dr. Ross said. “So we think a gene is highly penetrant and high risk for a condition,
and we may learn five, six years down the road that it really isn’t. And the parents
may change their child’s whole diet, whole lifestyle based on this risk factor that
may not be.”
In general, any screening should be driven only by the best interests of the child,
said Dr. Trotter, who served on the federal Advisory Committee on Heritable Disorders
in Newborns and Children. That body makes recommendations for mandatory newborn screening,
or the Recommended Uniform Screening Panel. The committee recommends that states screen
for 35 core disorders and 26 secondary disorders, but states choose which ones to
offer. (Besides the mandatory newborn tests, parents also can request a supplemental
Role of genetic counseling
When parents question Dr. Trotter about DTC screening of newborns, he asks them if
they will have the ability to get pre- and post-test counseling from someone who knows
what they are doing — a geneticist, genetics counselor or primary care physician experienced
in this area.
“I think you need somebody to interpret this beyond the (DTC) companies — some of
them offer it, some don’t,” Dr. Trotter said. “Most of them use an off-site genetic
counselor or unit to do it, which doesn’t allow for the kind of follow-up that one
needs if they really have some positive results that need follow-up.”