This is a Choose Your Own Adventure article. If you want a short article, read the first paragraph and skip to “The Current Use of Genetic Data.” If you want to be a well-informed citizen of the world and have about 10 minutes, read in its entirety.
SPOILER ALERT: You will end up in the same nightmare no matter which path you take.
The Cost of Direct-to-Consumer Genetic Tests
The personal genomics industry grew exponentially in the previous decade. Advertisements sell genotyping as a cheap method to discover novelty traits in one’s genome. Many consumers fail to recognize that an objective of companies like 23andMe is to gather data that will be stored indefinitely, sold, and mined.[1] One 23andMe co-founder, Anne Wojcicki, stated that her vision for the company was for it to become a database like Google for genetic information.[14] Board member Patricia Chung told Fast Company, “the long game here is not to make money selling kits, although the kits are essential to get the base level data… Once you have the data, [the company] does actually become the Google of personalized health care.”[15]
The cost of sharing one’s DNA is much greater than the $99 sticker price of the kits, but it is not too late to receive a partial refund.
What is a Genome?
A genome is the complete set of deoxyribonucleic acid (DNA) found in an organism.[2] Most DNA is composed of two paired strands called the double helix, which twist at a common axis. The strands are composed of four chemicals that are bound by hydrogen to create nucleotide bases. The bases are adenine (A), thymine (T), cytosine (C), and guanine (G). Bases on opposite strands are paired together: A binds with T, and C binds with G. There are approximately 3 billion base pairs in the human genome.[3]
What is Genotyping?
Genotyping occurs when a DNA sequence is compared to another to determine the genetic makeup of an individual. Genotyping analyzes specific predetermined areas of DNA.[4] The positions where base pairs are known to vary are called single-nucleotide polymorphism (SNPs pronounced “snips”). SNPs occur in 1 of every 1000 bases.[5] Companies like 23andMe analyze about 600,000 SNPs for variants in DNA that are responsible for one’s traits.[6]
How is Genotyping Performed?
Microarray chips are commonly used in genotyping and their design determines what is tested.[7] The chips are prepared on small pieces of glass or nylon and divided into a grid with twelve compartments. Each grid contains a microscopic compartment of tiny beads and DNA sequences that are used to analyze a specific gene. One chip can include DNA that relates to thousands of distinct genes.[8]
Hydrogen bonds are heated and broken to create a single strand of DNA.[9] A different strand of DNA is cut and washed over the chip for testing.[10] A sequence in the sample that matches a sequence on the chip will hybridize to form base pairs with beads that are sequentially complimentary.[11] The samples are labeled with fluorescent tags that glow under ultraviolet light and are evaluated by a computer. The beads are incubated with a mixture of nucleotides that are tagged with different colored fluorescent molecules. The color the beads glow is determined by how the base pair is completed. This technique allows analyst to determine which version of the DNA sequence the chip contains.
What Can Genotyping Identify?
Genotyping can identify mutations in a gene or patterns in tumorous tissues to determine if an individual is susceptible to specific diseases. Valuable information can be collected based on the location of SNPs in the genome. Most monogenic disorders, such as sickle-cell anemia, occur due to SNPs in the coding regions of the genes.[12] Genotyping can also examine base pairs to analyze seemingly irrelevant information, such as if one is more likely to have wet or dry ear wax, sneeze when observing bright lights, or smell asparagus in urine.[13]
The Current Use of Genetic Data
The government has access to DNA from millions of consumers and their relatives because tens of millions of Americans use direct-to-consumer genome services. Law enforcement identified the Golden State serial killer following a forty-year search when his third and fourth cousins uploaded their DNA to the website GEDMatch. Other companies, such as Family Tree DNA, also allow law enforcement to search their databases to solve violent crimes. 23andMe and Ancestry state they will not share genetic data with the government absent a court order.[16] Personal genetic service providers; however, do sell anonymized data to third parties, including pharmaceutical companies such as GlaxoSmithKline.[17]
The Dangerous Potential Uses of Genetic Data
Supervisory Special Agent in the FBI’s Weapons of Mass Destruction Directorate Edward You believes biological weapons designed to target specific DNA may be developed if bad actors receive access to genetic data.[18] You also warns that the Chinese are collecting data from around the world, with the objective to form the world’s largest genetic database. “Once they have access to your genetic data, it’s not something you can change like a pin code.” WuXi, a Chinese pharmaceutical and medical device company, made an investment in 23andMe in 2015, but 23andMe says WuXi has not received access to any user data.
Another concern is that genetic research may attempt to make predictions about one’s future– such as earning potential– based on one’s genes.[19] The collection, storage, and dissemination of highly sensitive biological data must be federally regulated before a “worst case scenario” occurs.
Current Legal Landscape
Current federal legislation does not address privacy interest in genetic data outside the insurance or employment context. The Genetic Information Nondiscrimination Act (GINA) prevents the denial of employment or insurance coverage based on genetic information.[20] Privacy protections under Health Insurance Portability and Accountability Act (HIPPA) only apply when insurances is involved.[21] The relevant regulation occurs at the state level, creating a patchwork of laws with varying protections. California and Virginia recently ratified comprehensive privacy legislation. California’s Genetic Information Privacy Act requires consumers provide “express consent” before the collection, use, or disclosure of genetic data. Consent includes storage of data and use beyond original purpose. John Verdi, vice president of policy at the Future of Privacy Forum, called the CA measures “common-sense baseline privacy protections.”[22] The Virginia Consumer Data Protection Act (VCDPA) requires companies receive affirmative consent from consumers before processing sensitive data, which includes genetic and biometric data, race, religion and geolocation information. The legislation allows consumers to access, correct, and delete personal data, and to opt-out of its processing for profiling or targeted advertising. The law mirrors the European Union’s General Data Protection Regulation (GDPR)– which is discussed elsewhere on BS— by creating data controllers that document data protection assessments, and ensure data use is limited to its original purpose.[23] It is unclear if companies will offer consumers outside CA and VA the same protection given to residents of those states.
Suggestions for Federal Regulation
It is imperative the federal government safeguards privacy interest in genetic data so protection is uniformly applied. The GDPR is a model for the U.S.; however, due to the U.S. Senate and personal interest groups, it is unlikely the U.S. will offer the same degree of protection afforded to Europeans. Congress can enact a law similar to the VCDPA that was endorsed by Microsoft and Amazon, which suggests it is far from perfect.[24] The Virginia law requires companies write a clear privacy policy, disclose sale of data, and provide a simple method for users to opt-out of data sale. Furthermore, the law ensures Virginians can exercise user protection rights without procedural hurdles.[25]
BS Conclusion
If the federal government follows the suggestions above, genetic data will still pose a unique challenge: family members cannot provide “consent” for use of their genetic code. Genetic similarities between relatives trigger the privacy interests of an entire family tree. Ellen Wright Clayton, co-founder of the Center for Biomedical Ethics and Society at Vanderbilt said, “the law has nothing to say about whether I can prevent my sisters or cousins or my kids from putting their genomic sequence out there.”[26] More than 60% of Americans with Northern European ancestry can be identified through DNA databases due to the volume of people that shared genetic sequences online.[27] Soon, 90% of Americans of European descent will be identifiable through these registries. Although this issue cannot be redressed, perhaps you will discover sufficient European ancestry to apply for EU citizenship. Once there, you can take advantage of the GDPR where your data will be better protected.
Cheers,
BS
[1] Harper, Matthew, Surprise! With $60 Million
Genetech Deal, 23andMe Has A Business Plan, Forbes,
http://www.forbes.com/sites/matthewherper
/2015/01/06/surprise-with-60-million-genentech
-deal-23andme-has-a-business-plan
/#4efc25877927
[2] The Human Genome Project
(https://www.genome.gov/11006943/human
-genome-project-completion-frequently-asked-questions/)
[3] Lodish, Harvey, Molecular
Cell Biology, Fourth Edition
http://www.ncbi.nlm.nih.gov
/books/NBK21475/
[4] 23andMe: Genotyping vs. Sequencing
https://www.youtube.com/watch?v=8xmQtJwLRQc
[5] Syvanen, Ann-Christine, Accessing
Genetic Variation:
Genotyping Single Nucleotide
Polymorphisms
http://www.plantsciences.
ucdavis.edu/bit150/
DN_Lecture/Syvanen2001.pdf
[6] Hughes, Austin, Me, My Genome and 23andMe
The New Atlantis No. 40 (Fall 2013), pp. 3-18
[7] Useful Genetics: Lecture 6G
[8] PhD Foundation- Interactive Tutorials:
DNA Microarrays http://www.phgfoundation.org
/tutorials/dna/6.html
[9] Alberts, Bruce… Molecular Biology of the Cell, Sixth Edition, p.472
[10] Useful Genetics: Lecture 6G – How SNP-typing works
https://www.youtube.com/watch?v=Naona1y_I2U
[11] http://www.phgfoundation.org/
tutorials/dna/6.html
[12] http://www.plantsciences.ucdavis.edu
/bit150/DN_
Lecture/Syvanen2001.pdf
[13] Sefie, Charles, 23andMe Is Terrifying, but Not for the
Reasons the FDA Thinks, Scientific America,
http://www.scientificamerican.com
/article/23andme-is
-terrifying-but-not-for-the-reasons
-the-fda-thinks/
[14] Id.
[15] Murphy, Elizabeth, Inside 23andMe Founder Anne
Wojcicki’s $99 DNA Revolution, Fast Company,
https://www.fastcompany.com/3018598/for-99-this-
ceo-can-tell-you-what-might-kill-you-inside-23andme-
founder-anne-wojcickis-dna-r
[16] https://www.vox.com/recode/
2019/12/13/20978024/genetic-testing
-dna-consequences-23andme-ancestry
[17] https://www.businessinsider.com/dna-testing-ancestry
-23andme-share-data-companies-2018-8
[18] https://leaps.org/bad-actors-getting-your-health
-data-is-the-fbis-latest-worry/particle-3
[19] https://www.wired.com/story/the-us-urgently-
needs-new-genetic-privacy-laws/
[20] https://www.vox.com/recode/
2019/12/13/20978024/
genetic-testing-dna-consequences
-23andme-ancestry
[21] https://news.bloomberglaw.com/privacy-and-
data-security/with-congress-quiet-states-step-
in-to-safeguard-genetic-privacy
[22] https://news.bloomberglaw.com/privacy-and-data-
security/with-congress-quiet-states-step-in-to-
safeguard-genetic-privacy
[23] https://www.natlawreview.com/
article/virginia-s-
new-consumer-data-protection-act
[24] https://www.jdsupra.com/
legalnews/virginia-s-
new-data-privacy-law-an-8812636/
[25] https://www.natlawreview.com/
article/virginia
-s-new-consumer-data-protection-act
[26] https://www.wired.com/story/
the-us-urgently-needs
-new-genetic-privacy-laws/
[27] https://www.nytimes.com/2018/10/
11/science/science-
genetic-genealogy-study.html