How Genetic Counselors are Dealing with Direct-to-Consumer Genetic Testing
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After receiving
ancestry information from a direct-to-consumer (DTC) genetic testing
company, Ellen Matloff, a certified genetic counselor and frequent writer about
the limitations of DTC tests, downloaded her raw data file from their website
for interpretation by a third party service. She was shocked to see that her
raw data included a variant for Lynch
syndrome, a hereditary cancer syndrome that causes an increased risk
for cancers including colorectal, uterine, and ovarian cancers. As a genetic
counselor, Ellen was aware of recent findings
that 40% of variants found in DTC raw data files are false positives, meaning
that retesting in a clinical laboratory showed that the variant was not
actually present. Despite knowing that her result was probably not accurate,
she still experienced the panic and fear that can accompany an unexpected
result. Understanding results from DTC testing can be even more challenging for
the millions of consumers who do not have specialized education and experience
in the field of genetics, like Ellen does. Where should they turn for support?
ancestry information from a direct-to-consumer (DTC) genetic testing
company, Ellen Matloff, a certified genetic counselor and frequent writer about
the limitations of DTC tests, downloaded her raw data file from their website
for interpretation by a third party service. She was shocked to see that her
raw data included a variant for Lynch
syndrome, a hereditary cancer syndrome that causes an increased risk
for cancers including colorectal, uterine, and ovarian cancers. As a genetic
counselor, Ellen was aware of recent findings
that 40% of variants found in DTC raw data files are false positives, meaning
that retesting in a clinical laboratory showed that the variant was not
actually present. Despite knowing that her result was probably not accurate,
she still experienced the panic and fear that can accompany an unexpected
result. Understanding results from DTC testing can be even more challenging for
the millions of consumers who do not have specialized education and experience
in the field of genetics, like Ellen does. Where should they turn for support?
Genetic counselors
might be the first option that some would consider when looking for help in
understanding their DTC test results. Genetic counselors recognize that there
is demand for counseling about DTC test results. The topic has started to be
covered in graduate training programs and continuing education courses, though no genetic
counseling core competencies specifically address DTC testing.
Genetic counseling is projected to have a growth rate
of 29% from 2016 to 2026. However, there are currently only 4,818
certified genetic counselors in the US, while about 26
million consumers have used DTC genetic testing. Most clinics
prioritize patients who have a clear indication for genetics services, for
example, because of a strong family or personal history of a disorder,
suspicious signs and symptoms, or abnormal genetic test results. While some
individuals with DTC testing results will meet these criteria, most will not.
might be the first option that some would consider when looking for help in
understanding their DTC test results. Genetic counselors recognize that there
is demand for counseling about DTC test results. The topic has started to be
covered in graduate training programs and continuing education courses, though no genetic
counseling core competencies specifically address DTC testing.
Genetic counseling is projected to have a growth rate
of 29% from 2016 to 2026. However, there are currently only 4,818
certified genetic counselors in the US, while about 26
million consumers have used DTC genetic testing. Most clinics
prioritize patients who have a clear indication for genetics services, for
example, because of a strong family or personal history of a disorder,
suspicious signs and symptoms, or abnormal genetic test results. While some
individuals with DTC testing results will meet these criteria, most will not.
Most DTC companies
do not provide in-house genetic counseling for their customers, although a
recent Bloomberg
article described how some DTC companies provide training for their
customer service representatives on how to handle calls related to sensitive
test results. To accommodate patients with DTC results, some genetic counselors
are providing DTC group counseling, where they will meet with a group of
patients with similar concerns, then discuss individual concerns with each
patient. Some independent genetic counseling companies have been created
to help address the growing need for genomic services, including DTC test
result interpretation, through in-person and virtual services. The National
Society of Genetic Counselors developed blogs about DTC testing
and a brief interactive tool to
help DTC consumers better understand their results and how (and if) to act on
them.
do not provide in-house genetic counseling for their customers, although a
recent Bloomberg
article described how some DTC companies provide training for their
customer service representatives on how to handle calls related to sensitive
test results. To accommodate patients with DTC results, some genetic counselors
are providing DTC group counseling, where they will meet with a group of
patients with similar concerns, then discuss individual concerns with each
patient. Some independent genetic counseling companies have been created
to help address the growing need for genomic services, including DTC test
result interpretation, through in-person and virtual services. The National
Society of Genetic Counselors developed blogs about DTC testing
and a brief interactive tool to
help DTC consumers better understand their results and how (and if) to act on
them.
As most consumers
do not have immediate access to genetic counselors, primary care providers
(PCPs) are often the first ones approached with DTC results. A recent study
found that primary care providers have concerns about their ability to address
DTC testing results and a desire for clinical decision support to help in
interpretation of results. There have been some opinions
published about how PCPs should approach DTC results, but there are no standardized
guidelines for handling interpretation or referrals. Not
every DTC consumer needs genetic counseling, but some may. Primary care
providers and genetic counselors can work together to ensure that genetic
counseling referrals based on DTC test results are made appropriately. PCPs can
work with their patients to decide if the concerns can be effectively addressed
during their appointment, or if a genetic counselor would be in a better
position to help them. For example, people who, like Ellen, have used a
third-party interpretation services for their raw data file and received an
unexpected diagnosis may benefit from first having their PCP order genetic testing
by a CLIA-certified
laboratory to confirm the results. Genetic counselors can work with
PCPs to provide feedback about which referrals are most appropriate. This may include people who test positive for
a genetic variant associated with an increased risk for disease, such as
certain BRCA mutations which increase cancer risk.
do not have immediate access to genetic counselors, primary care providers
(PCPs) are often the first ones approached with DTC results. A recent study
found that primary care providers have concerns about their ability to address
DTC testing results and a desire for clinical decision support to help in
interpretation of results. There have been some opinions
published about how PCPs should approach DTC results, but there are no standardized
guidelines for handling interpretation or referrals. Not
every DTC consumer needs genetic counseling, but some may. Primary care
providers and genetic counselors can work together to ensure that genetic
counseling referrals based on DTC test results are made appropriately. PCPs can
work with their patients to decide if the concerns can be effectively addressed
during their appointment, or if a genetic counselor would be in a better
position to help them. For example, people who, like Ellen, have used a
third-party interpretation services for their raw data file and received an
unexpected diagnosis may benefit from first having their PCP order genetic testing
by a CLIA-certified
laboratory to confirm the results. Genetic counselors can work with
PCPs to provide feedback about which referrals are most appropriate. This may include people who test positive for
a genetic variant associated with an increased risk for disease, such as
certain BRCA mutations which increase cancer risk.
Broader public
health efforts are needed to educate the large number of DTC testing consumers,
prospective consumers, and healthcare providers. Educational campaigns for
consumers could include more thorough guidance on understanding DTC test reports,
as well as information about if and when they should consider seeking support. To
assist PCPs and other providers with interpreting DTC testing results, provider
education could include explanations of the methodologies and limitations of
DTC testing. It could also include information about how to do genetic testing
in a CLIA-certified laboratory to confirm results and identify false positives prior
to referral to genetic counseling. Clear guidance on these concepts may help
PCPs address most concerns or questions from patients. These efforts should
make it possible to assist a larger portion of the population, given the
limited number of available genetic counselors. Genetic counselors could play a
role in these public health efforts by aiding in the development of these
materials. They can also help raise awareness of these campaigns amongst
referring providers and other genetic counselors, letting potential patients
explore these options first. DTC testing does not appear to be going away any
time soon. Through collaboration and public health efforts, we can work to
maximize the potential benefits and minimize the potential harms of DTC
testing.
health efforts are needed to educate the large number of DTC testing consumers,
prospective consumers, and healthcare providers. Educational campaigns for
consumers could include more thorough guidance on understanding DTC test reports,
as well as information about if and when they should consider seeking support. To
assist PCPs and other providers with interpreting DTC testing results, provider
education could include explanations of the methodologies and limitations of
DTC testing. It could also include information about how to do genetic testing
in a CLIA-certified laboratory to confirm results and identify false positives prior
to referral to genetic counseling. Clear guidance on these concepts may help
PCPs address most concerns or questions from patients. These efforts should
make it possible to assist a larger portion of the population, given the
limited number of available genetic counselors. Genetic counselors could play a
role in these public health efforts by aiding in the development of these
materials. They can also help raise awareness of these campaigns amongst
referring providers and other genetic counselors, letting potential patients
explore these options first. DTC testing does not appear to be going away any
time soon. Through collaboration and public health efforts, we can work to
maximize the potential benefits and minimize the potential harms of DTC
testing.
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