Highlights
- •By blurring the lines between commercial ‘health’ products and medical information, direct-to-consumer (DTC) companies are de facto performing medical tests.
- •Health professionals and the general population need to be aware of the significant limitations of DTC genetic health tests.
- •No medical decision should be taken on the basis of genetic results obtained outside of a legally regulated framework.
- •If DTC companies perform medical tests, they have to be carried out in a regulated framework guaranteeing their quality.
Abstract
Direct-to-consumer (DTC) commercial companies offer genetic tests that are presented
as allowing individuals the opportunity to increase their capacities to be in charge
of their own healthcare managements. DTC companies deny performing medical tests,
yet they provide data based on sequencing multigene panel or whole exome. This contradiction
allows these companies to escape the requirements of a regulated medical practice
that guarantees the quality of the tests, as well as the information and support for
tested individuals. Herein, we illustrate the lack of such requirements by analysing
the bad experience of a young man who dealt with DTC health genetic testing companies.
There is an emergency for DTC testing to be either deprived of any medically relevant
information, or carried out in a legally regulated medical framework.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to European Journal of CancerAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- HGVS recommendations for the description of sequence variants: 2016 update.Hum Mutat. 2016; 37: 564-569https://doi.org/10.1002/humu.22981
- The identical 5’ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.Hum Genet. 1999; 105: 388-398https://doi.org/10.1007/s004399900153
- Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome.Nature. 1990; 348: 747-749https://doi.org/10.1038/348747a0
- Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.J Community Genet. 2018; 9: 117-132https://doi.org/10.1007/s12687-017-0344-2
- Direct-to-consumer genetic testing.BMJ. 2019; : l5688https://doi.org/10.1136/bmj.l5688
- Currents in contemporary ethics direct-to-consumer genetic testing: is it the practice of medicine?.J Law Med Ethics. 2009; 37: 369-374https://doi.org/10.1111/j.1748-720X.2009.00380.x
- Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes.Eur J Hum Genet. 2010; 18: 1271-1273https://doi.org/10.1038/ejhg.2010.129
- Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics.Genet Med. 2016; 18: 207-208https://doi.org/10.1038/gim.2015.190
- The British society for genetic medicine. Position statement on Direct to consumer genomic testing.2019
- False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.Genet Med. 2018; 20: 1515-1521https://doi.org/10.1038/gim.2018.38
- When health tech companies change their terms of service.Science. 2020; 367: 745-746https://doi.org/10.1126/science.aaz6732
- Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer.J Clin Oncol. 2017; 35: 2232-2239https://doi.org/10.1200/JCO.2016.71.6480
- “Decoding hereditary breast cancer” benefits and questions from multigene panel testing.Breast. 2019; 45: 29-35https://doi.org/10.1016/j.breast.2019.01.002
- Risk assessment, genetic counseling, and genetic testing for BRCA -related cancer: US preventive services Task Force recommendation statement.J Am Med Assoc. 2019; 322: 652https://doi.org/10.1001/jama.2019.10987
- European Breast Cancer Council manifesto 2018: genetic risk prediction testing in breast cancer.Eur J Canc. 2019; 106: 45-53https://doi.org/10.1016/j.ejca.2018.09.019
- Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.Genet Med. 2019; 21: 28-37https://doi.org/10.1038/s41436-018-0028-2
- ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.Hum Mutat. 2012; 33: 2-7https://doi.org/10.1002/humu.21628
- A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes.Genet Epidemiol. 2005; 29: 1-11https://doi.org/10.1002/gepi.20074
- Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The international collaborative group on hereditary nonpolyposis colorectal cancer.Gastroenterology. 1997; 113: 1146-1158https://doi.org/10.1053/gast.1997.v113.pm9322509
Article info
Publication history
Published online: April 24, 2020
Accepted:
March 4,
2020
Received:
February 28,
2020
Identification
Copyright
© 2020 Elsevier Ltd. All rights reserved.