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Who Am I? What's in My Future? Who Has the Right to Know?

Nondiscrimination and Privacy in Genetic Testing

By Gail Mullins

As a species, 99 percent of our DNA is identical; the remaining 1 percent makes each of us unique. Every cell in our body contains a DNA molecule made up of 46 chromosomes, 23 inherited from our mother and 23 from our father. Inside each chromosome resides a twisted double-helix of DNA: the classic long, twisted ladder you may remember from high school biology. Each rung on that ladder consists of two proteins (called base pairs).

The human genome contains about 3 billion base pairs. Each gene is made up of a group of base pairs, and each gene tells our cells how to make a particular protein. Because the human body requires instructions for thousands of proteins, the human genome contains about 20,500 genes.

A base pair that is missing or in the wrong locations on a gene is known as a mutation. A mutated gene may instruct a cell to make no protein, extra proteins or a different type of protein. These instructions may have no effect on the body or may result in disease. Some diseases, such as cystic fibrosis, are caused by a mutation in a single gene. Other diseases result only when multiple genes contain mutations.1

Researchers have determined the precise location of common gene mutations. When many people share a common mutation, that mutation is known as a single nucleotide polymorphism (SNP). Because the locations of common SNPs are known, it is not necessary to test the entire human genome to determine whether a person carries a gene for a certain disease. Instead, genetic testing can focus on the specific gene locations where disease-causing mutations are known to occur.

Environment and lifestyle choices can activate or deactivate a mutated gene and influence the impact of the disease. Type II diabetes, for example, can run in families, and it has a genetic component, but persons who watch their weight, don’t smoke and exercise regularly may have a lower risk of disease than those who don’t make the same positive lifestyle choices.

Oklahoma, like most other states, requires all newborns to be screened during the first week of life for more than 30 diseases.2 Many of these diseases, including cystic fibrosis and sickle cell anemia, are caused by genetic mutations.

Patients may also undergo genetic testing when family history or medical symptoms indicate a possible genetic mutation. When planning a pregnancy, if one or both partners have a family history of a genetic disease, both may undergo genetic testing to determine whether they carry a mutation. Genetic testing may also be completed on embryos produced through in vitro fertilization. During pregnancy, a fetus may be tested when other prenatal tests indicate an increased risk of genetically transmitted disease.

More recent developments include pharmacogenomic testing to predict how a person will likely respond to a specific medication – whether that medication will be effective, be likely to cause serious side effects and optimal dosage.3

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR, pronounced “crisper”) is probably the hottest topic in genetics today. CRISPR is a bacterial defense system that forms the basis for genome editing.4 These systems can be programmed to target and edit a mutated gene known to exist at a specific location, thus potentially curing the underlying genetic disease. While the possibilities are exciting – researchers recently restored vision in blind mice, for example – concerns remain about secondary mutations that might be caused by the CRISPR process, so it may be a while before the potential of this extraordinary technology can be fully unleashed on humans.5

In April 2017, 23andMe, which has more than 2 million customers in its database, became the first company to have direct-to-consumer genetic testing approved by the FDA. 23andMe currently tests as many as 580,000 genetic variants (SNPs) to assess risk for genetic diseases as well as to provide ancestry information.

Customers of commercial genetic companies pay a fee, spit into a vial provided by the company and mail it in. The consumer’s DNA is sequenced and the locations of common genetic mutations are analyzed for the existence of mutations associated with more than 50 diseases, including Parkinson’s disease, late-onset Alzheimer’s, heart disease, celiac disease, cystic fibrosis, various cancers, age-related macular degeneration, hereditary hearing loss, polycystic kidney disease, some muscular dystrophies, Tay-Sachs and sickle-cell anemia.6

Commercial testing companies may also trace your ancestry by comparing your SNPs to those associated with large numbers of people from a particular region of the world. Along with associating your DNA with countries of origin, you may find you have average, low or above-average Neanderthal ancestry. (Don’t be embarrassed if your Neanderthal ancestry is above average. Sure, our Neanderthal ancestors had big heads and broad, stooped backs, but the good news is that they also had bigger brains – a trait you may have inherited.)

Does cilantro taste like dish soap to you? Can you curl your tongue? Do you become enraged at the sound of another person chewing? Do you have the muscle type of a sprinter? Are you really lactose intolerant? Do you flush when you drink alcohol? Do you prefer sweet to salty? Can you smell asparagus in urine? Do you sneeze when you first walk outside in the sun? All these traits are inherited, and this intriguing, if not life-changing, information can provide great fodder for cocktail-party chat.

For many of us, choosing to undergo genetic testing may produce some anxiety. Cultural issues also surround ancestry: What makes us who we are – is it biology, shared family and culture or a combination of both? For example, a 1993 survey of adults with hereditary hearing loss found that almost 30 percent preferred to have a deaf child and over half believed that a genetic test for deafness would lead to negative results in the deaf community.7

Other issues can arise if a person learns she has an inherited genetic mutation that may result in a serious illness. What happens if testing reveals that her siblings each have a 50 percent risk of inheriting the same mutation, but she does not want to share her prognosis? Or perhaps she decides to inform her siblings but, to her surprise, only one sibling chooses to undergo genetic testing.

As databases have grown, commercial testing has also provided unprecedented opportunities for consumers to connect with long-lost relatives. Consumers are given the option to share identifying information with DNA-confirmed relatives or to keep information private. Adopted children searching for a birth parent through a commercial DNA company may find a parent or sibling who was similarly searching, as long as both parties have been tested and have agreed to share information with other relatives. But suppose that when the second sibling in our example above undergoes genetic testing, she also discovers she has a different father than her sisters, a fact heretofore unknown to her or the other siblings. The remaining two siblings chose not to be tested because they did not want the cloud of a potential illness over their lives. What information should be shared?

Next to finding a genetic mutation or a formerly unknown biological relationship, the most anxiety-producing concern is that of privacy. How will your genetic information be protected? Can it be shared? Will it be stolen or misused? Research data must be “deidentified,” which means personal identifying information is kept in a separate database from genetic information and linked only by “randomly assigned research identification.” 8 There is no sharing of identifying information without explicit consent. Commercial genetics companies have every reason to protect individual identifying information – the continued viability of their companies depends on it, but ethicists still worry that it might be possible in some cases to “work backward” and identify individuals based on results and additional clues given in the research.9

A more specific concern is that genetic privacy laws almost universally exempt insurers of life, disability income and long-term care insurance. As many as 75 percent of those diagnosed with Alzheimer’s eventually live in a nursing home, at an annual cost currently estimated at $88,000. 10The genetic marker APOE is considered “both a direct predictor of nursing home admission and an indirect predictor of long-term care use via its link with Alzheimer’s.”11 Those who have been identified as having the APOE4 gene, a marker associated with a 25 percent risk of developing Alzheimer’s, have been found six times more likely to buy long-term care insurance. Insurers do not currently require genetic testing to determine long-term care eligibility or set premiums, but insurers worry that the financial deck is stacked against them when consumers who know, through genetic testing, that they are at high risk for Alzheimer’s, seek disability income, long-term care or life insurance far more often than do others. Insurers have no access to the genetic information known by the consumer – information that translates to an increased likelihood of eventual use of the insurance product.12 So, increasingly, insurers have turned to using eligibility questions that subtly reveal early signs of memory loss.

What if you have genetic testing and are later asked on a life insurance or disability policy application whether you have ever been tested? Nondisclosure could be considered insurance fraud because laws protecting privacy of genetic testing do not extend to life, disability income or long-term-care insurance.

Remember those base pairs that form the rungs of the DNA ladder helix? About 999 out of every 1,000 base pairs are identical from person to person, but because we have 6 billion base pairs, there are still variations in around 6 million of those pairs. Forensic analysis capitalizes on those distinctions to statistically predict the percentage of persons who might share identical DNA markers by comparing specific areas of the gene, called loci, that are not typically the same in different people. DNA of a suspect and DNA obtained from a crime scene are compared for matching sequences where there is the greatest human variation.13 In forensic testing, a lab may compare only a few of these loci to predict the probability that two DNA samples came from the same source.

In ancestry and medical genetics testing, on the other hand, testing focuses on finding differences where humans share the same genetic information to predict the likelihood of a disease mutation. For that reason, at least currently, commercial and medical DNA testing has limited applicability in the field of forensics.

The international Human Genome Project, which sequenced the human genome in 23 years14 two years ahead of schedule,15 was accompanied by very real concerns about what others would be able to know about us. Genetic information is protected under both state and federal laws, but neither provides for absolute privacy, and it is important to understand what is not protected. Oklahoma protects genetic information in the areas of insurance, employment and research.16Under the Genetic Nondiscrimination in Insurance Act,17 accident and health insurers cannot deny or condition coverage and benefits, or discriminate in pricing based on a pre-existing condition as determined by genetic information, including information about the individual, covered family members and a fetus or embryo legally held by the individual or family member. The act specifically does not apply to life, disability income or long-term-care insurance.

In addition, a health insurer may request but not require an individual or family member to undergo genetic testing for research if the “insurer clearly indicates” that compliance with the request is voluntary. Interestingly, obtaining “genetic information incidental to the requesting, requiring, or purchasing of other information concerning any individual” does not violate the law.

Under Oklahoma’s Genetic Nondiscrimination in Employment Act,18 employers cannot obtain or use genetic information of an employee or prospective employee, or require an employee or prospective employee to provide that information for the purpose of “distinguishing between or discriminating against an employee or prospective employee.” Again, though, this ban on genetic information does not apply to life, disability income and long-term-care insurance.

Those who “maintain[] genetic information” are “compelled to disclose such information” only if 1) the request is related to a paternity determination; 2) the person “whose genetic information is requested is a party to a proceeding in which the genetic information is at issue;” 3) the person “whose genetic information was requested was insured under an insurance policy and the policy as well as the genetic information is at issue;” or 4) “[t]he genetic information is for use in a law enforcement proceeding or investigation or an insurer anticipates or is reporting fraud or criminal activity.”19 This protection from disclosure in legal proceedings does not apply to “life, disability income or long-term-care insurance.”

Finally, Oklahoma’s Genetic Research Studies Nondisclosure Act20 allows publication of genetic information “for research or educational purposes if no individual subject is identified” or the individual has given “specific informed consent” for disclosure. Genetic research results are not “subject to subpoena or discovery in civil suits, except where the information in the records is the basis of the suit.” Research records are not disclosable to employers or health insurers without the informed consent of the subject,” but once again, this section does not apply to life, disability income or long-term-care insurance.

The Genetic Information Nondiscrimination Act of 2008 (GINA)21 protects individuals against discrimination in employment and issuance of health insurance based on genetic information, but, like Oklahoma law, this federal protection does not extend to life, disability-income or long-term-care insurance. Title I of GINA applies to health insurance.

A group health plan can request but not require a participant to undergo genetic research testing if participation has no effect on enrollment status, underwriting, premium or contribution amounts. Group health plans also cannot request, require or purchase genetic information 1) for underwriting purposes or 2) with respect to an individual prior to the individual’s enrollment in connections with such enrollment. GINA prohibits health insurers in the individual market (including Medicare supplemental policies) from basing eligibility on genetic information, including pre-existing conditions based on genetic information. “Genetic information” includes genetic information of 1) a fetus carried by a pregnant woman and 2) an embryo legally held by an individual or family member of an individual using Assisted Reproduction Technology (ART).

Title II of GINA prohibits employers, employment agencies and labor organizations from discrimination based on genetic information, including 1) failing to hire, discharging or otherwise discriminating against an employee with respect to compensation, conditions or privileges of employment; 2) failing or refusing to refer a person for employment; 3) excluding or expelling a member from a labor organization; 4) for an employment agency, labor organization or joint labor management committee, causing or attempting to cause an employer to discriminate against a member; and 5) discrimination in admitting or employing an individual in any program established to provide employment training. Title II provides three exceptions under which an employer may use a person’s genetic information: 1) to comply, for example, with certification requirements of family and medical leave laws; 2) when genetic monitoring is used to measure effects of toxic substances in the workplace; or 3) when the employer conducts DNA analysis as a forensic lab or for human remains identification.

Disclosure of required genetic information may be made only to 1) the employee upon request; 2) an occupational or other health researcher; 3) in response to a court order; 4) a government official investigating compliance with GINA if the information is relevant; 5) in connection with compliance with federal or state family medical leave laws; or 6) a public health agency. GINA does not overturn broader protections provided in state regulations; more than 40 states prohibit genetic discrimination. In addition to GINA, the 21st Century Cures Act of 2016,22 Affordable Care Act (ACA) and HIPAA contain provisions protecting genetic information and banning discrimination.23

Recently, in AARP v. EEOC,24 the AARP challenged two EEOC regulations promulgated under HIPAA and the ACA “related to incentives and employer-sponsored wellness programs.” The EEOC regulations allowed employers to impose up to a 30 percent premium increase for employees who refuse to disclose medical and genetic information through employer wellness programs.

HIPAA allows discounts or rebates on copayments or deductibles to employees complying with sponsored wellness programs,25 including “a discount on insurance costs or a penalty that increases the plan participant’s costs because of nonparticipation in the wellness program.”26 The ACA amended HIPAA to “allow plans and insurers to offer incentives of up to 30% of the cost of coverage in exchange for an employee’s participation in a health-contingent wellness program.”27The decision in AARP turned on determining the point at which a penalty or incentive makes participation in a wellness program less than voluntary. The court found “employer-sponsored wellness programs often involve the collection of sensitive medical information from employees, including information about disabilities or genetic information,”28 and the court found no reasonable basis for the 30 percent maximum discount/penalty, and it directed the EEOC to redraft the regulations.

Only four months later, the district court granted AARP’s motion to reconsider and “vacate[d] the challenged incentive portions of the ADA and GINA rules”29 but stayed its decision until Jan. 1, 2019, to allow the EEOC time to redraft rules and to allow affected employers time to comply with those new rules.30 The court found it was “far from clear the EEOC will view a 30% incentive level as sufficiently voluntary,”31 and, given the EEOC’s admission that “any new final rule ‘likely would not be applicable until the beginning of 2021,’” the court found it unlikely that the agency would “address its errors ‘in a timely manner.’”32

The AARP decision will affect any features of an employer-sponsored wellness program that involves genetic information, including genetic testing of the employee and the employee’s covered family members, as under both the ADA and GINA, medical examinations must be voluntary. It also shines a spotlight on the Hobson’s Choice facing many employees: the exchange of private information or affordable health insurance?33

Gail Mullins is assistant dean of experiential learning and director of legal research, writing and advocacy at the OU College of Law where she also teaches legal writing, nonlitigation drafting and bioethics courses. She is licensed to practice in Oklahoma.

1. www.genome.gov/pages/education/allaboutthehumangenomeproject/guidetoyourgenome07_vs2.pdf.
2. 63 Okla. Stat. §§1–533; 1–534 (OSCN Dec. 30, 2017).
3. mayoresearch.mayo.edu/center-for-individualized-medicine/drug-gene-testing.
4. www.broadinstitute.org/what-broad/areas-focus/project-spotlight/questions-and-answers-about-crispr.
5. Kellie A. Schaefer, et al., “Unexpected mutations after CRISPR-Cas9 editing in vivo,” Nature Methods, 14, 547–48 (May 30, 2017, corrected online July 25, 2017), www.nature.com/nmeth/journal/v14/n6/full/nmeth.4293.
6. 23andme.com.
7. www.ncbi.nlm.nih.gov/pma/articles/PMC1377492
8. www.genome.gov/27026588/informedconsent.for-genomics-research.
9. wwww.genome.gov/27561246/privacy-in-genomics.
10. Ed Lee Feldt, “Keep it to Yourself: Buying Insurance Based on Your Genetics,” Insure.com (March 25, 2013, Last updated Feb. 22, 2018), www.insure.com/long-termcare/buying-insurance-based-on-genetics
11. Donald H. Taylor Jr., et al, “Genetic Testing for Alzheimer’s and Long-Term Care Insurance,” Health Affairs, Vol. 29, No. 1 (January 2010); www.healthaffairs.org/doi/abs/10.1377/hlthaff.2009.0525.
12. Gina Kolata, “New Gene Test Poses a Threat to Insurers,” New York Times (May 12, 2017),www.nytimes.com/2017/05/12/health/new-gene-tests-pose-a-threat-to-insurers.
13. John M. Butler, “The future of forensic DNA analysis,” Philosophical Transactions of the Royal Society B, (Aug. 5, 2015),rstb.royalsocietypublishing.org/content/370/1674/20140252.
14. www.genome.gov/10001772/all-about-the-human-genome-project-hgp.
15. report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45&key=H#H
16. 36 Okla. Stat. §3614.1–3614.4 (OSCN through 2017).
17. Id. §3614.1.
18. 36 Okla. Stat. §3614.2.
19. 36 Okla. Stat. §3614.3.
20. 36 Okla. Stat. §3614.4.
21. Genetic Information Nondiscrimination Act of 2008, P.L. No. 110-233, 1223 Stat. 881 (2008).
22. 21st Century Cures Act, P.L. 114-255, §2012 (2016).
23. P.L. 111-148, §1201; 9 U.S.C. §1182. 
24. AARP v. EEOC, 267 F. Supp. 3d 14, 18 (D.D.C. 2017).
25. Id. at 19 (citing 29 U.S.C. §1182(b)(2)(B); 26 U.S.C. §8902(b); 42 U.S.C. §300gg-4(b)).
26. Id. (citing 26 C.F.R. §54.9802-1(f)(1)(i)).
27. Id. at 2-3 (citing 78 Fed. Reg. 33,158,33,180).
28. Id. at 20.
29. 29 C.F.R §§1630.14(d)(3) and 1635.8(b)(iii).
30. AARP v EEOC, No. 16-2113, 2017 WL 6542014 at A5 (D.D.C. Dec. 20, 2017).
31. Id. at *4.
32. Id.
33. In 2017, 85 percent of large employers (greater than 200 employees) and 58 percent of small companies offered wellness programs, www/kff.org/report-section/ehbs-2017-summary-of-findings.

Originally published in the Oklahoma Bar Journal -- OBJ 89 pg. 7 (May 2018)