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Position Statements |
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Direct-to-consumer Genetic Testing: Position Statement of the
Society for Indian Academy of Medical Genetics (SIAMG)
Background:
With rapid technological advances, genomic testing
has become widely available and affordable to
the public. 'Direct-to-consumer genetic testing
(DTC-GT)' refers to genomic/genetic testing offered
to consumers by commercial service providers
without the supervision and guidance of a health
care professional, predominantly for the purpose
of finding their ethnic origins, paternity, genomic
variants that might affect disease pre-disposition,
life style, or disease status, and management.
Due to wider access to online advertisements
and publicity gimmicks evoking the curiosity of
consumers, there has been a rise in the demand
and uptake of DTC-GT in India. The Society
for Indian Academy of Medical Genetics (SIAMG)
believes that DTC-GT without involving a health
care professional causes more harm than good
and the society strongly discourages the use of
DTC-GT in any circumstance.
Present status:
No strict regulations for DTC-GT services exist
in India. Currently, worldwide more than 300
commercial organisations offer DTC-GT and information is easily available over the internet
(organisations' websites or e-commerce websites)
with unmoderated access, with or without the
intermediation of a healthcare professional. These
commercial organizations often make exaggerated
claims and promises on benefits of these services
by providing scientifically unproven information.
Society for Indian Academy of Medical Genetics
position on direct-to-consumer genetic testing has
discussed this issue among its executive committee
members and has resolved that:
The SIAMG does not endorse DCT-GT and
strongly dissuades the use of over-the-counter
DTC-GT for healthcare purposes (for the diagnosis,
predisposition testing, carrier testing and management) or in any other form of service delivery
(paternity testing, ethnic origin, predisposition
to life style disorders, pharmacogenomics etc.)
without a healthcare professional and/ or pre and
post-test genetic counseling. SIAMG condemns the
use of DTC-GT for testing of minors for carrier or
disease predisposition testing.
Explanation:
1. Genetic tests and interpretation of their
results are complex and are associated with
ethical, social and legal issues. Any form
of genetic testing should be undertaken
for an appropriate medical indication under
a certified genetic healthcare professional
after appropriate pre-test counselling and informed consent. Post-test counseling should
be provided while providing the results back.
2. The clinical utility and validity of DTC-GT
are questionable as they emphasize only on
the genetic variants, totally disregarding the
clinical signs/ symptoms, medical and family
history, effects of environment, and lifestyle
of the consumers. In India, there are no
quality assurance guidelines for most of the
genetic assays and pathogenicity prediction
of the detected genetic variants and hence
clinical implications of DTC-GT are extremely
doubtful.
3. There is a huge scope for misinterpretation of
the genetic results as neither the commercial
organizations nor consumers understand the
complexity of genomic assays in the absence
of health care professionals. They may fail to
realize that the genetic test performed may
not be able to provide an etiological diagnosis
for condition in question. Moreover, this
might lead to a sense of false assurance, if
genetic test has not detected any clinically
relevant variant. DTC-GT may also generate
undue anxiety if result is positive, as there
is no healthcare professional to explain the
implication of the results.
4. The consumers may not completely understand the utility, implications and actionability
of the detected genetic variants and thus may
receive inappropriate medical advice which
may cause immense psychological distress
and discrimination. Such unsupervised and
unwarranted testing can cause a huge burden
on the healthcare system and genetic counsellors, who will be requested to interpret the
complex genetic results.
5. Concerns over consumer data storage, privacy and sharing also exist.
6. Predictive testing in minors raises many
ethical, legal and social concerns.
References:
1. Farkas DH, Holland CA. Direct-to-consumer
genetic testing: two sides of the coin. J Mol
Diagn 2009; 11: 263-5.
2. Phillips AM. Data on Direct-to-Consumer Genetic Testing and DNA testing companies. DOI:
10.5281/zenodo.1183565. https://zenodo.
org/record/1183565#.XM1YeegzY2w
3. Ramos E, Weissman SM. The dawn of consumerdirected testing. Am J Med Genet C Semin Med
Genet 2018; 178: 89-97.
4. Scott Roberts J, Ostergren J. Direct-to-Consumer
Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.
Curr Genet Med Rep 2013; 1: 182-200.
5. Su P. Direct-to-consumer genetic testing: a
comprehensive view. Yale J Biol Med 2013; 86:
359-365.
6.https://www.healio.com/gastroenterology/oncology/news/online/%7B3839aa60-4115-4298-94fd-8dd35927079d%7D/dtc-genetic-testingincreased-uptake-requires-expert-guidance
Drafted by Dr Dhanya Lakshmi N1 and Urja Asher2 on behalf of Society of Indian Academy of Medical Genetics
(SIAMG)
1Associate professor, 2MSc Genetic counselling, Department of Medical Genetics, Kasturba Medical College, Manipal, India
The executive committee of SIAMG approved this statement on 10 August 2019
Click here to get download Position Statement
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