Gene Mapping and Direct to Consumer Genetic Testing – Moral and Ethical
Considerations
Gene mapping, or linkage mapping, is the process of tracing disease among genetic
familial lines. a Cancers, chronic illnesses, and various other maladies can be traced
through populations this way. a Genetic mapping can also be used to isolate the
chromosome and gene location on the chromosome causing the malady (NHGRI,
2019). a Gene mapping technology historically was government funded research,
but with biotech advances has spun-off into a cottage industry outside of
healthcare systems and pharmaceutical companies. a I’m going to focus on the
ethical implications of direct to consumer (DTC) genetic testing throughout this
post.
Growing from gene mapping technology and from DNA testing and analysis
technology, DTC DNA testing made it’s way into consumers hands as early as 2000s
(Allyse, 2018). a This kind of market is worth over 10 billion dollars in 2018
(McCombs School of Business at the University of Texas at Austin, 2020).
Initially, looking at 23andMe as an example, the DTC testing kits were sold with
aspirational marketing and no regulation. a Before DTC, genetic testing was
conducted by a lab and diagnostic testing company (like Quest Diagnostics) in
conjunction with a physician ordering the test. a The results would be interpreted
for the patient by a medical professional to ensure comprehension of results,
understanding of true personal risk, and provide informed consent. a DTC genetic
testing removed the medical professional from the equation. a The DTC gentic
testing industry has an underlying libertarian perspective that genetic information
belongs to the patient and medical professionals are gatekeeping (Allyse, 2018).
Prior to FDA intervention and regulation in 2010, DTC genetic testing companies
often displayed results ambiguously - “40% increase in risk,” without any context
on what the risk range should be. a This is the primary reason the FDA required DTC
companies to submit products for approval as medical devices – setting standards
for consumer comprehension of results. a
Within the area of medical devices, informed consent is imperative to ethical use
and distribution of the products. a Informed consent is the idea that patients should
have sufficient information and data regarding their medical decision (Allyse,
2018). a A patient or consumer has the right to information in order to understand
the various impacts and results to expect with the medical device, according the
FDA (Allyse, 2018). a While that mandate covers what DTC genetic testing
companies can market to consumers and claim about their products to consumers,
it does not address or regulate the data these companies collect about consumers. a
The FDA required DTC genetic testing companies to clarify the delivery of results,
however, removing the medical professional, can they really ensure that a patient
truly understands to long reaching impacts of these screenings?
Another ethically contentious area within DTC genetic testing is data privacy. a
Ironically, the application of aspirational mission statements of these companies -
patients have a right to access their DNA information - stops at keeping medical
professionals from “being middlemen” (Allyse, 2018). a The DTC companies have no
problem requiring consumer to sign various parts of their DNA data over to them. a
These companies will then collect other consumer data and combine the DNA data
with it into a profile. a More likely than not, DTC companies are using Google
Analytics or one of the various subsidiaries to assess the data for marketing. a This
means anything Google may have on a user can be combined with the DTC genetic
testing data (McCombs School of Business at the University of Texas at Austin,
2020). a
HIPPA governs patient medical data among medical professionals. a When a DTC
company gets DNA information or even the salvia samples from a consumer, it’s
consumer data that can be bought and sold. a Terms of service instead of rigorous
medical procedure consents can be used to describe the use of the genetic testing
data (McCombs School of Business at the University of Texas at Austin, 2020). a
I think the use of medical data in a consumer context is the most ethically nebulous
area DTC genetic testing companies live in. a The FDA has at least required the
testing results meet the standard of a medical device. However, the question of
who owns DNA data and what right a patient has to accessing it is still being
hammered out.
Allyse, M. A. (2018, January 1). Direct-to-Consumer Testing 2.0: Emerging Models
of Direct-to-Consumer Genetic Testing. Mayo Clinic Proceedings. Retrieved May 23,
2022, from https://www.mayoclinicproceedings.org/article/S0025-6196(17)30772-
3/fulltext
McCombs School of Business at the University of Texas at Austin. (2020, January
16). Ethical Use of Home DNA Testing. Ethics Unwrapped. Retrieved May 23, 2022,
from https://ethicsunwrapped.utexas.edu/case-study/ethical-use-of-home-dna-
testing
NHGRI. (2019, March 9). Genetic Mapping Fact Sheet. Genome.Gov. Retrieved May
23, 2022, from https://www.genome.gov/about-genomics/fact-sheets/Genetic-
Mapping-Fact-Sheet
