Wednesday, December 8, 2010

Genetic Information Nondiscrimination Act and HHT

Genetic Information Nondiscrimination Act (GINA)
By Amy Jurevic Sokol, JD, MHA*

            In May of 2008, George Bush signed the Genetic Information Nondiscrimination Act (GINA) into law and all aspects of the law became effective in November 2009. Congress enacted GINA because it believed that a national and uniform basic standard is necessary to protect the public from discrimination and allay concerns about the potential for discrimination, thereby allowing individuals to take advantage of genetic testing, technologies, research, and new therapies.

GINA is divided into two titles. Title I prohibits discrimination based on genetic information in health coverage. Title I applies to group health plans sponsored by private employers, unions, state and local government employers; issuers in group and individual health insurance markets; and issuers of Medicare supplemental insurance.

Title II prohibits discrimination in employment based on genetic information and limits the acquisition of genetic information by employers (there are some exceptions noted below), labor unions, employment agencies, and joint labor-management committees (collectively referred to as “covered entities”). The individuals protected by Title II of GINA are job applicants, current and former employees, labor union members, apprentices and trainees.

This summary may seems simple but GINA is a complicated law with multiple twists and turns. There are several exceptions to each general rule. This article attempts to provide a summary of the law so some details are either left out or further explained in the footnotes.  If you are applying GINA to your particular situation you may want to review the text of the law and the regulations (especially the comments to the regulations). You may also wish to contact qualified legal counsel.

GINA amends multiple federal laws, has regulations promulgated by multiple federal agencies, and will continue to evolve over time.  There are currently three sets of regulations: (1) interim final rules jointly published by the Departments of Treasury, Labor, and Health and Human Services which went into effect December 7, 2009;[1] (2) proposed regulations published by the Department of Health and Human Services;[2] and (3) final regulations covering Title II published by the Equal Employment Opportunity Commission on November 9, 2010 (effective January 10, 2011).[3]


The first step in the process is defining and understanding what encompasses the genetic information protected by GINA. I have attempted to simply the definition and provide examples (many of the examples are from the regulations). The term “genetic information” includes:
  • Family[4] medical history (means information about the manifestation of disease in family members of the individual);
  • an individual’s genetic tests;
  • a family member’s genetic tests;
  • an individual’s request for or receipt of genetic services or the participation in genetic research that includes genetic services by the individual or a family member (genetic services include genetic testing, counseling, and education);
  • genetic information about a fetus carried by an individual or an individual’s family member; and
  • genetic information of any embryo of an individual or family member using an assisted reproductive technology;[5]

The next important definition is “genetic test.” A genetic test is defined as an analysis of human DNA, RNA, chromosomes, proteins, metabolites, or chromosomal changes. Genetic tests include—
·      susceptibility and predictive testing (for instance, BRCA testing for risk of breast or ovarian cancer, testing for Huntington disease, or HNPCC testing for risk of colon cancer);
·      carrier testing (for instance, cystic fibrosis, sickle cell anemia, spinal muscular atrophy, and fragile X);
·      prenatal genetic testing (for instance, amniocentesis and chorionic villus sampling);
·      newborn screening analysis that uses DNA, RNA, protein, or metabolite analysis to detect or indicate genotypes, mutations, or chromosomal changes (for instance, a test for PKU);
·      preimplantation genetic diagnosis performed on embryos created using in vitro fertilization (also called embryo screening);
·      pharmacogenetic tests that detect genotypes, mutations, or chromosomal changes that indicate how an individual will react to a drug or a particular dosage of a drug;
·      DNA testing to detect genetic markers that are associated with ancestry; and
·      DNA testing that reveals family relationships (for instance, a paternity test).
Genetic information does not include:
·      A manifested disease;
·      An analysis of proteins or metabolites that does not detect genotypes, mutations, or chromosomal changes;
·      A medical exam that tests for the presence of a virus that is not composed of human DNA, RNA, chromosomes, proteins, or metabolites;
·      A test for infectious and communicable diseases that may be transmitted through food handling;
·      Complete blood counts, cholesterol tests, and liver-function tests; and
·      A test for the presence of alcohol or illegal drugs (but a test to detect if an individual has a genetic predisposition to alcohol or drug use would be a genetic test).[6]

The next important definition and for some diseases the most difficult to apply is “manifestation” or “manifested.” The reason it is so important is GINA excludes a manifested disease from the definition of genetic information. That means GINA’s protections do not apply to an individual’s manifested disease. However other laws, for instance the Americans with Disabilities Act, may apply. Therefore the definition of “manifestation or manifested” as it related to a disease becomes extremely important. The term “manifested” with respect to a disease means:
that an individual has been or could reasonably be diagnosed with the disease, disorder, or pathological condition by a health care professional with appropriate training and expertise in the field of medicine involved … a disease, disorder, or pathological condition is not manifested if the diagnosis is based principally on genetic information.[7]
This means that the presence of a genetic variant alone does not constitute a diagnosis; other signs and symptoms must be present.  The example provided in the final regulations for Title II is Huntington’s disease. The presence of the genetic variant virtually guarantees later development of Huntington’s disease, but the disease does not usually manifest until adulthood. Therefore, even with a positive genetic test, the disease is not considered manifested if and until symptoms develop.[8]

GINA and Health Insurance

GINA prohibits health insurers from requesting, requiring, or using genetic information to make decisions about: (1) your eligibility for health insurance; or (2) your health insurance premium, contribution amounts, or coverage terms. In addition, GINA makes it against the law for your health insurer to:
·      Consider family history or a genetic test result a pre-existing condition;
·      Ask or require that you have a genetic test; or
·      Use any genetic information they do have to discriminate against you, even if they did not mean to collect it.

An insurance company may request information about genetic test and family history to make decisions about paying for certain tests and procedures (and may include the costs of genetic testing and services in determining premiums or contribution amounts). Once health insurers have this information, they may not use it to discriminate against you in the ways described above.

There are different rules for group versus individual policies once you have manifested a disease:
·      A plan or issuer may increase the premium or contribution amount for a group health plan based on the disease of an individual enrolled in the plan. (A group plan is limited to excluding pre-existing conditions to 12 months (18 months for late enrollees) but the plan must credit the employee for prior months of credible coverage (group or individual coverage, Medicare or Medicaid)—this means if you switched jobs and did not have a gap in coverage (more than 63 days without coverage) as long as you had coverage for 12 months, your new plan may not exclude pre-existing conditions).

·      A plan or issuer in the individual markets may establish rules for eligibility, increase premiums, and impose preexisting condition exclusions based on the manifestation of a disease in an individual or a family member covered under the policy that covers the individual. (But the plan or issuer may not use a manifestation of a disease in one individual as genetic information about family members covered under the same policy or a different policy to further increase premiums. This means that if one member of a family has been diagnosed with Huntington disease (and has symptoms), the insurance company may raise premiums based on the symptomatic family member but may not raise rates based on family members without symptoms).

GINA and Employment

Basically Title II of GINA :
·      Prohibits the use of genetic information in employment decisions;
·      Restricts employers, employing offices, employment agencies, labor organizations, or joint labor-management committees (called “covered entities”) from requesting, requiring, or purchasing genetic information;
·      Requires genetic information be maintained in a confidential medical record, and places strict limits on disclosure of genetic information;
·      Provides remedies for individuals whose genetic information is acquired, used, or disclosed in violation of Title II.
Title II applies to job applicants, current and former employees, labor union members, and apprentices and trainees. GINA makes it against the law for:
·      employers to discriminate (in hiring, discharge, compensation, terms, conditions, or privileges of employment) against an individual on the basis of an individual’s genetic information;
·      labor agencies to fail or refuse to refer any individual for employment or otherwise discriminate against any individual because of an individual’s genetic information;
·      labor unions to exclude or expel from membership of the organization or otherwise discriminate against any member because of a member’s genetic information; and
·      employers, labor unions, or joint labor-management committee controlling apprenticeships or other training/retraining programs to discriminate against any individual on the basis of his/her genetic information.[9]

Generally it is against the law for a covered entity to request, require, or purchase the genetic information of a potential or current employee, or his or her family members. There are a few exceptions to when an employer can legally have your genetic information. However, the use of genetic information however acquired to discriminate in employment matters is prohibited. These exceptions are:
·      A covered entity inadvertently requests or requires genetic information of the individual or a family member (there are specific rules that define what inadvertent is);[10]
·      Where a covered entity offers health or genetic services (for instance wellness programs; there are specific rules that define when this exception applies and examples are given in the comments to the Title II regulations);
·      A covered entity may request family medical history when an individual requests family medical leave under FMLA (or under a family leave policy as long as documentation regarding the relevant family member is always requested);
·      Where a covered entity acquires genetic information from documents that are commercially and publically available for review and purchase (this exception does not apply to covered entities that access publically and commercially information with the intent of obtaining genetic information; please carefully read the footnote for more details);[11]
·      Where a covered entity acquires genetic information for use in the genetic monitoring of biological effects of toxic substances in the workplace (must be required by law or authorized by the employee);
·      Where an employer conducts DNA analysis for law enforcement purposes and uses genetic information of its employees, apprentices, or trainees but only to the extent that the genetic information is used for analysis of DNA identification markers for quality control and is maintained and disclosed consistent with such use;[12]
·      Where a covered entity requests information of another family member that works for the covered entity (for instance, an employer requires a family member to take a post-offer medical exam that does not include genetic information);
·      Where a covered entity obtains information from a family member that also works for the covered entity through a voluntary “wellness” program.
If an employer does have the genetic information of an employee, the employer must keep it confidential and in a separate medical file.[13] 

                        GINA does not apply to life, disability, and long-term care insurance. That means if you apply for one of these types of insurance they can ask about genetic information and make coverage decisions based on that information. GINA does not apply to members of the military who receive their care through Tricare, veterans who receive their care through the Veterans Administration, the Indian Health Service, and federal employees enrolled in the Federal Employee Health Benefits Plan. All of these groups have policies in place that provide protections similar to GINA.

            In addition, GINA does not apply to employers with fewer than fifteen employees, does not apply to Indian tribes, private clubs, and does not apply to the United States military and Federal employees.[14] Finally, Title II protections do not apply to the actions of a law enforcement agency investigating criminal conduct, even when the subject of the investigation is an employee of the law enforcement agency.[15]

What does this mean for HHT?

To (hopefully) make an explanation of how GINA applies to HHT easier, I have drafted a case study to illustrate the protections and limitations of GINA.

            Fred married Ethel and they had three children: Rickie, Lucy, and Susie. Fred had nosebleeds all of his life, several requiring care in the emergency room to stop them.  At 50 he went to an ENT physician for nosebleeds and the ENT suspected he had HHT (Hereditary Hemorrhagic Telangiectasia, a dominant hereditary disease of abnormal blood vessel formation). He had the genetic test for HHT and it was positive. Unfortunately, he declined to have additional screening and was not thoroughly screened for CAVMs (cerebral arteriovenous malformations )  and  PAVMS (pulmonary arteriovenous malformations). Since none of his children had nosebleeds, he decided that they did not have HHT and did not tell them (he didn’t want them to worry). At 54 he had a stroke and died.  After his death, his wife, Ethel, did some research on HHT and discovered:

·       HHT is nonsex-linked dominant hereditary disease (therefore, each child had a 50-50 chance of having the disease);
·        HHT occurs in 1 in 5,000 to 8,000 people;
·       A person can have no symptoms and still have the disease;
·       The symptoms of the diseases usually worsen with age; and
·       HHT is a multisystem disorder and can strike the skin, nose, GI tract, lungs, liver, and brain.

Ethel quickly decided to tell their three children, Rickie, Lucy, and Susie, about the disease. Rickie, Lucy and Susie each are trying to decide whether they should get the genetic test.

As discussed in the article above GINA’s protection change if an individual has “manifested” a disease.  So in part (b) of each question below, I changed the facts so that Rickie, Susie, and Lucy have HHT.

What does it mean to manifest HHT? According to the literature, the current diagnostic criteria for determining if a patient has HHT are the Curcao Criteria.[16] The criteria are: (1) spontaneous, recurrent nosebleeds; (2) a first-degree relative (sibling, parent, child) with HHT; (3) multiple telangiectasias at characteristic sites (lips, mouth, nose, fingers, finger nail bed); (4) visceral lesions (gastrointestinal tealngiectasia, lung AVM, liver AVM, or brain AVM). To manifest HHT means that HHT has been or could be diagnosed by a health care professional with appropriate training and expertise in the field of medicine involved but the diagnosis is not based principally on genetic information. The HHT diagnosis is made if three of the Curcao Criteria are present, it is suspected if two criteria are present, and not likely if less than two criteria.

Questions and Possible Answers

Question 1(a)             Rickie is about to apply for a job at a meat packing plant and wants to know if they can ask him questions about his family medical history.

Answer:            If the employer has more than 15 employees (and is not an Indian Tribe, the military or Federal government) then GINA applies and the employer may not ask Rickie questions about his family medical history.  However, if Rickie applies for benefits such as long-term care insurance, life insurance, or disability insurance questions concerning family history may be asked in the application process. (There may be state laws that offer additional protections and change this answer).

Question 1(b)            What if Rickie received the information and immediately went to a physician to get a complete physical (including an MRI of his brain). The physical revealed that he has an AVM in his brain and telangiectasia on his lips, tongue and fingernails. Since his father had HHT, he has three of the criteria necessary to make the diagnosis. Further since family history (which is genetic information under GINA) is only one of three criteria, the diagnosis is not made principally on the basis of genetic information. 

Answer:            Under the Title II regulations, Rickie has manifested the disease.  GINA would no longer apply but the Americans with Disabilities Act would apply (to employers with more than 15 employees- although some states require all employers, regardless of size to comply with the ADA) Generally, the ADA places restrictions on employers when it comes to asking job applicants to answer medical questions, take a medical exam, or identify a disability (whether HHT would be considered a “disability” under the ADA is a very fact specific analysis).[17]

Question 2(a)            Susie is about to get married and wants to have children. She has asked her insurance company to pay for genetic testing. Her insurance company has asked questions about her family history and any genetic testing. Does she have to provide the company with the requested information? Susie is concerned that if she gives them the information, her insurance rates will go up.

Answer:            The health insurance company may request (and require) the information about family history in determining whether or not to pay for genetic testing. The insurance company may not use Susie’s family history or the results of the genetic testing in underwriting decisions.  But the insurance company may use the costs associated with the genetic testing in setting premiums/contributions. Also Susie would be required to pay any co-pays associated with the testing.

Question 2(b)            What if Susie meets three of the Curacao Criteria?

Answer:             If Susie does have HHT and meets three or more of the Curacao Criteria, the fact that she has HHT could be used in underwriting decisions.
Question 3(a)             Lucy would like to get the genetic test at some point but first she wants to get as much insurance as possible---  long-term care, disability, health, and life. She wants to know if they can ask her questions about her family history.

Answer:            Long-term care, disability, and life insurers are not included in GINA so those insurers may ask questions about family history and genetic information and use that information in underwriting decisions. (There may be state laws that offer additional protections and change this answer). Health insurers are covered by Title I of GINA and may not ask questions about her family history or require a genetic test.

Question 3(b)             What if Lucy has three of the Curacao Criteria?

Answer:              If Lucy meets three or more of the Curacao Criteria then she would meet the requirements of “manifested” and Lucy would have to list HHT on the health insurance application, if asked. If Lucy is applying for an individual policy or there is a gap in insurance, then the insurance company may be able to exclude HHT as a pre-existing condition (always read your policies carefully).

State Law           

            GINA provides a minimum level of protections for genetic information; state law may provide additional protections. The majority of states have laws that prohibit the use of genetic information in underwriting decisions in health insurance (remember state laws are preempted by ERISA so these laws would not apply to ERISA plans, generally employer sponsor health plans).[18]  State genetic nondiscrimination laws in the employment context are in place in 34 states and Washington DC[19]. Finally there are a few states that have passed genetic nondiscrimination laws for long-term care, life, and disability insurance.[20]

* This article is for informational use only and does not constitute legal advice. © 2010 Amy Jurevic Sokol.
[1] 74 Fed. Reg. 51663 (Oct. 7, 2009).
[2] 74 Fed. Reg. 51697 (Oct. 7, 2009).
[3] 75 Fed. Reg. 68911 (Nov. 9, 2010).
[4] A family member is defined (for purposes of Title II) as a dependent (includes who are or become related to an individual through marriage, adoption, or placement for adoption) and person related from the first to the fourth degree (first degree is children, siblings, and parents; fourth degree is great-great grandparents and the children of first cousins).
[5] Genetic information does not include information about the sex, age, race or ethnicity of the individual or family members that are not derived form a genetic test. 29 CFR § 1635.3(c).
[6] 29 CFR § 1635.3(f).
[7] 29 CFR § 1635.3(g).
[8] 75 Fed. Reg. 68911, 68917 (Nov. 9, 2010). Another example—a health insurer may not ask about family history of breast cancer or if an individual has the marker for breast cancer but a health insurer may ask if a person currently has breast cancer.  Even if an individual states that she/he has breast cancer, the health insurer may not ask if the individual has the marker for breast cancer (the genetic information of an individual with a manifested disease is still protected under GINA). A health insurer may request information about a family history of breast cancer to decide whether to pay for a genetic test. Once the insurance company has this information it may not use it in underwriting decisions.
[9] 29 CFR § 1635.4.
[10] For instance, conducting an Internet search on an individual in a way that is likely to result in finding out genetic information about an individual; actively listening to third party conversations or searching a person’s personal effects for the purpose of obtaining genetic information and making requests for information about an individual’s current health status in a way that is likely to obtain genetic information is not inadvertent. 75 Fed. Reg. 68911, 68919 (Nov. 9, 2010).  An example of “inadvertent” is an employer unwittingly receiving genetic information through casual conversation or an overheard conversation.  For instance, a supervisor asking how an employee’s weekend was and the employee responds that he spent the entire weekend at the nursing home taking care of his mother who has Huntington’s disease.
[11] Publically available information does not include information in medical databases (that have restricted access) or court records. Media sources with limited access should not be considered commercially and publically available (for instance, many Facebook, Linked In, and My Space profiles require permission from the creator to access (these are not commercially available) but most Blogs only require registration and not permission (these would be publically available). However many Facebook group pages (especially foundations for diseases) do not require permission or access is routinely granted and these would most likely be considered publically available. 75 Fed. Reg. 68911, 68925 (Nov. 9, 2010). Examples of when this exception would apply are (1) an employer reads an article in the news paper that is about five women who are dealing with the effects of having the genetic marker for breast cancer and one of the women is the employer’s employee; (2) an employer does a Internet search on a employee without reference to a genetic marker; and (3) access of genetic information outside of the employment context- an employer attends a self help group on dealing with a genetic disease (because the employer has it) and an employee is there as well.
[12] 29 CFR § 1635.8.
[13] 75 Fed. Reg. 68911, 68924 (Nov. 9, 2010).
[14] Federal employees are protected by Executive Order 13145 (2000) (available here: Frequently asked questions regarding this Executive Order is available here:
[15] 75 Fed Reg. 68911, 68913 (Nov. 9, 2010).
[16] Scott E. Olitsky, MD, Hereditary Hemorrhagic Telangiectasia, 82 American Family Physician, 785, 788 (October 1, 2010).
[17] Under the ADA, an employer may not ask a job applicant to answer medical questions or take a medical exam before making a job offer. However, an employer may ask a job applicant whether the applicant can perform the job and how the applicant would perform the job. A job offer may be conditioned on the applicant answering certain medical questions or successfully passing a medical exam, but only if all new employees in the same job have to answer the questions or take the exam. Once an individual is hired and has started work, an employer generally can only ask medical questions or require a medical exam if the employer needs medical documentation to support an employee’s request for an accommodation or if the employer has reason to believe an employee would not be able to perform a job successfully or safely because of a medical condition.

[18] A chart of state laws concerning health insurance and genetic information is available at
[19] A chart with state laws concerning employment and genetic information is available here:
[20] A chart of state laws concerning life, disability, and long-term care insurance and genetic information is available here:

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