Direct-to-consumer personal genome testing allows customers to order genetic testing kits online, swab their cheek for a DNA sample, send it to a lab for analysis, and access their results online. While this provides information about disease risks and ancestry, there are also ethical concerns like inaccurate results, lack of counseling, and potential for genetic discrimination. Regulators in the US face challenges overseeing these tests, as some laboratories develop their own tests which escape FDA review, and tests may be used for purposes other than their intended use. The solution may lie in expanding post-market surveillance and regulation as is done for drug approval.

1. Should tests be made available
directly over the counter or on
the internet?
AhmadMuzakhir binSulong(2021256908) –PHP711

2. Introduction
Direct-to-consumer personal genome testing (DTC-PGT) screens a
customer’s genome for the presence of SNP that are reported to be
associated with various diseases, disease risk factors and personal
characteristics. The range of health risks covered by PGT includes
cancer, heart disease, obesity, etc. Information about ancestry and
family history is also available. Although DTC-PGT is still a relatively
new enterprise, the technology has the potential for rapid expansion as
it becomes more accessible to consumers who wish to obtain
information about their genetic profile.
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3. More than 30 companies..
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4. Direct-to-consumer
Personal Genome Testing
Customers order a kit online, sample
their DNA from the inside of their
cheek using a swab, and send it to the
company lab for genetic testing.
Results are accessed online, and can
be shared with family and friends.
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5. Ethical concerns posed by DTC-PGT
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Unable to rule out the possibility
of privacy breach
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✔ Access to test result by a third party could result in genetic
discrimination.
✔ US Senate passed an Act in 2008 to prevent discrimination
against people based on their genetic information.
Companies provide test results
without any counselling support
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✔ needs to be considered in light of the uncertainty that attends all
screening and diagnostic tests.
✔ DTC-PGT will yield a proportion of false results about the
likelihood of developing disease.
The information by the companies
may be inaccurate or misleading
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✔ may undermine the ability of consumers to make informed
decisions about PGT
✔ professional and advisory bodies has issued statements warning
consumers to be skeptical of industry claims.
Individual Harm

6. Social Harm
1. The uncertainty generated by positive gene–disease may
also lead to further (unnecessary) investigations, and will
ultimately be costly to consumers, insurers and the
healthcare system.
2. The transfer of genetics from the clinic to the community
could undermine public health initiatives by diverting
scarce health resources away from research.
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7. US Federal Regulation
in regulating DTC Test
▸ Laboratories that provide clinical testing
services are regulated under the Clinical
Laboratory Improvement Amendments of
1988 (CLIA)
▸ The genetic test kits that lab purchase
from medical device manufacturers
receive additional regulation by the FDA as
in vitro diagnostic devices.
▸ However, if a lab develops a test in-house
[lab-developed test (LDT)], the test may
escape FDA oversight.
▸ Many LDTs fall within the definition of a
“device” that is subject to FDA regulation,
but in an exercise of its enforcement
discretion, FDA held back from regulating
most LDTs
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LDT receive internal validation at the lab that
developed them but do not receive data-
driven reviewby a regulator to ensure their
safety and effectiveness, nor are they
subject to the postmarket vigilance and
adverse event reporting that FDA regulations
provide.

8. 8
Some DTC tests are reviewed by the
FDA while others are not. In general,
DTC tests for non-medical, general
wellness, or low risk medical
purposes are not reviewed by the
FDA before they are offered. DTC
tests for moderate to high risk
medical purposes, which may have a
higher impact on medical care, are
generally reviewed by the FDA to
determine the validity of test claims.
FDA Oversight

9. FDA Oversight
When reviewing tests, the FDA assesses:
▸ Whether a test can accurately and reliably measure what it claims to measure
(analytical validity);
▸ Whether the measurement is predictive of a certain state of health (clinical
validity); and
▸ What a company says about their test and how well it works (claims).
The FDA also looks at whether the test offers accurate descriptive information
that can be easily understood by a consumer without the involvement of a health
care provider. This is done by reviewing the language used to instruct users on
collecting the sample and interpreting the test result report.
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10. Key Barrier
There are two key barriers to
FDA oversight of DTC tests:
(i) there is a lack of data to
support premarket clearance or
approval
(ii) even when data support the
test’s intended use, FDA cannot
control off-label use
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11. To date, FDA has granted marketing authorization
to the DTC tests listed below
Test Trade Name
(FDA Submission
Number)
Sponsor Intended Use / Indications for Use
23andMe PGS Carrier
Screening Test for
Bloom Syndrome
(DEN140044)
23andMe, Inc. indicated for the detection of the BLMAsh variant in the BLM gene
from saliva collected using an FDA cleared collection device
(Oragene DX model OGD-500.001).
23andMe PGS Genetic
Health Risk Report for
BRCA1/BRCA2 (Selected
Variants)
(DEN170046)
23andMe, Inc. reporting and interpreting genetic health risks, including the 23andMe
PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected
Variants).
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12. To date, FDA has granted marketing authorization
to the direct-to-consumer tests listed below
Test Trade Name
(FDA Submission
Number)
Sponsor Intended Use / Indications for Use
23andME PGS
Pharmacogenetic
Reports
(DEN180028)
23andMe, Inc. indicated for reporting of the following variants:
Gene Variant(s)
CYP2C19 *2, *3, *17
CYP2C9 *2, *3, *5, *6, rs7089580
CYP3A5 *3
UGT1A1 *6, *28
DPYD *2A, rs67376798
TPMT *2, *3C
SLCO1B1 *5
CYP2D6 *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *15, *17, *20, *29,
*35, *40, *41
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13. To date, FDA has granted marketing authorization
to the direct-to-consumer tests listed below
Test Trade Name
(FDA Submission
Number)
Sponsor Intended Use / Indications for Use
23andMe PGS Genetic
Health Risk Test
(DEN160026)
23andMe, Inc. • Hereditary Thrombophilia is indicated for reporting of the Factor
V Leiden variant in the F5 gene, and the Prothrombin G20210A
variant in the F2 gene
• Alpha-1 Antitrypsin Deficiency is indicated for reporting of the
PI*Z and PI*S variants in the SERPINA1 gene.
• Late-onset Alzheimer's Disease is indicated for reporting of the
ε4 variant in the APOE gene.
• Parkinson's Disease is indicated for reporting of the G2019S
variant in the LRRK2 gene and the N370S variant in the GBA
gene.
• Gaucher Disease Type 1 is indicated for reporting of the N370S,
84GG, and V394L variants in the GBA gene.
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14. “
The solution lies in accepting that premarket
studies cannot fully answer questions about
the safety and effectiveness of genetic tests
and focusing additional effort on postmarket
surveillance and regulation. This mirrors the
approach taken for drugs in the FDA
Amendments Act of 2007 (FDAAA), which
expands FDA’s authority to require ongoing
studies after drugs are approved and calls for
creation of a large data network to support
outcomes-based observational studies.
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15. References
Direct-to-Consumer Tests retrieved from https://www.fda.gov/medical-devices/in-
vitro-diagnostics/direct-consumer-tests on 26th January 2022.
Janssens, A. C. J., & van Duijn, C. M. (2010). An epidemiological perspective on the
future of direct-to-consumer personal genome testing. Investigative
genetics, 1(1), 1-5.
McGuire, A. L., & Burke, W. (2011). Health system implications of direct-to-
consumer personal genome testing. Public Health Genomics, 14(1), 53-58.
McGuire, A. L., Evans, B. J., Caulfield, T., & Burke, W. (2010). Regulating direct-to-
consumer personal genome testing. Science, 330(6001), 181-182.
Samuel, G. N., Jordens, C. F., & Kerridge, I. (2010). Direct‐to‐consumer personal
genome testing: ethical and regulatory issues that arise from wanting to
‘know’your DNA. Internal Medicine Journal, 40(3), 220-224.

16. Thanks!
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