Genetic Testing, Insurance and Health Policy

By Marilyn McHugh and Tiffanee Wright

April 2003


In this past decade, much attention has been centered on the Human Genome Project and the potential for understanding and promoting health and preventing disease.  This knowledge can also provide individuals with the opportunity for screening and identifying many genetic disorders.

However, it is also a time when the present health care system is neither accessible nor affordable to everyone.  And with the cost constraints that are now woven into healthcare planning, even those individuals who have medical insurance coverage will find that genetic services are oftentimes not available.

  Because a genetic basis has been found in many common diseases, public health agencies and organizations should determine how genetic services can be integrated into their programs.  This would be an easier task if a governmental mandate funded a U.S. healthcare infrastructure that would provide well-defined ethical, scientific and legal guidelines.


 The Human Genome Project and Its Consequences for Genetic Testing


The Human Genome Project has propelled the biological sciences into rapidly growing endeavors in genetic technologies that will change the future of medicine.  The implications for preventing, diagnosing and treating a wide range of diseases provides optimism for all of humankind.

            The goal of the Human Genome Project is to “map” and “sequence” the entire human genome.  The basic idea of the map is that it establishes specific landmarks throughout the genome that can be used as reference points to locate specific genes on chromosomes.  At designated intervals, markers are positioned along each of the forty-six chromosomes which serve as links to locate any designated genes.

            Sequencing is based on the knowledge that DNA is composed of a long string of base pair molecules (A’s,T’s,C’s and G’s) linked to a helical backbone.  The goal is to identify, in proper sequence, the three billion base pairs that comprise human DNA.  This process will provide the location and base-pair structure of all of the genes that code for humans.

            With the completion of the sequencing of the Human Genome, new vistas will now open in the practice of medicine.  The individual’s genome will help determine the optimal approach to care, whether it is preventive, diagnostic or therapeutic. Genomics has quickly emerged as the central basic science of biomedical research and is ready to take center stage in clinical medicine.

          It is now known that two unrelated persons share over 99.9 percent of their DNA sequences.  However, given the more than 3 billion base pairs that constitute the human genome, this also means that the DNA sequences of two unrelated humans vary at millions of bases.  An individual’s genotype is the result of the blending of parental genotypes; therefore, we are heterozygotic at approximately 3 million bases.

            In both the academic and private sectors, efforts are underway to catalogue these variants, commonly referred to a “single-nucleotide polymorphisms” (SNP’s). They serve as useful genetic markers for investigating genes susceptible to disease and drug responsiveness.  Not only are SNP’s of major interest in medicine and pharmacogenomics, but tools are now available which will correlate genotype to phenotype.  This information can provide evolutionary data concerning processes that molded the modern genome.  Currently, the National Center for Biotechnology Information (NCBI) maintains a database of Single Nucleotide Polymorphisms (dbSNP) at their website .

            Pharmaceutical companies anticipate gaining insight into a compound’s effects on drug metabolism and toxicity.  It is estimated that sixty percent of all drugs currently marketed are broken down in the body by the cytochrome P450 (CYP450) family of enzymes.  It has been observed that individual’s vary greatly in the efficiency of their CYP450 enzymes; some people are poor metabolizers, while others metabolize rapidly. Therefore, an individual’s CYP450 profile could predict the effects and responsiveness of a given drug. It is interesting to note, that two-thirds of a total of fifty or more pharmocogenomic related new drug applications that have been submitted to the FDA in recent years involve screening patients for drug-metabolizing enzymes.

The Journal Nature Genetics has recently published A User’s Guide to The Human Genome and Dr. Harold Varmus from Memorial Sloan-Kettering Cancer Center notes in the introduction of this text that the vast amount of knowledge has expanded so rapidly that all modern biologists who are using the genome methods have become dependent on computer science to store, organize, search, manipulate and retrieve new information.  Bioinformatics can best be described as a cross-disciplinary endeavor between computers and molecular biology.  It is also fundamental to the revolutionary changes that are occurring in the methods in which biomedical research is conducted.

From its beginnings, The Human Genome Project recognized its responsibility not only to map and sequence the human genome, but also to consider how this data will impact society.  To meet this latter responsibility, the project gave 5% of its annual research budget to study the “ethical, legal and social implications (ELSI)” of genome research.  ELSI, a NIH program, works with ethicists, social scientists, philosophers and historians to determine the implications of genetic discoveries.

It is anticipated that, over the next decade, the Human Genome Project, along with DNA array technology, advanced Bioinformatics and high-throughput screening systems, will allow rapid elucidation of complex genetic components of human health and diseases.               



Health insurance is an asset to millions of Americans, and is often taken for granted until an illness occurs.  As the role of genomics has become more and more prominent in the health field, questions concerning health coverage have arisen within the insurance industry.  The ability to know if a disease or illness will occur before symptoms develop can be compared to having a glimpse of the future.  Clearly the potential benefits are tremendous.  For example, a woman may request genetic testing because both her mother and sister were diagnosed with breast cancer before age forty.  Learning that she does not carry the mutation responsible for her relatives’ breast cancer will create an immense release of psychological stress as her risk for breast cancer now returns to that of the general population. 

But for the woman who does carry the mutation, she must live with the reality that she has 65-85% chance of developing the disease.  Therefore, to an insurance underwriter, knowing that these genetic test results will either indicate that this woman is at equal risk with the general population or that she may become a high liability to your company may be very important.        

Insurance companies have put forth several reasons as to why genetic information should be made available to them.  First, there is the possibility that “adverse selection” may occur and threaten the financial stability of individual companies, and perhaps the entire industry.  Adverse selection refers to an individual who has a greater incentive to buy more insurance because of his knowledge about a pending illness (ie. genetic test results) and withholds this information from the insurance company.  Secondly, insurance companies demand they have access to genetic information to ensure that all services and procedures are medically necessary, and that the charges are reasonable.  The insurance companies’ right to medical and genetic information has created quite a response from the community.

            The public has had a tepid reaction to genetic testing in relation to health insurance.  Fears of discrimination, privacy issues, loss of employment and confidentiality have been voiced far and wide through advocacy groups, individuals, grass-root organizations, and lobbyists.  The power of genetic testing is not just focused in the field of medicine but also impacts society as a whole. 

            A 1997 national survey in the U.S. found that nearly two-thirds of respondents would decline genetic testing if employers or health insurers had access to the results (Kaufert 2000).  Another study found that 32% of a group of eligible women who were offered genetic breast cancer testing as part of an NIH study declined because of concerns of health insurance discrimination (ibid).  The fears of the public prompted state and federal governments to develop legislation to alleviate such concerns. In 1998, over 150 bills were presented to state governments, and 7 were moved through Congress to address the issue of genetic discrimination.  In the mid 90s, the National Institute of Health-Department of Energy (NIH-DOE) Ethical, Legal, and Social Implications (ELSI) Working Group and the National Action Plan on Breast Cancer hosted workshops on genetic discrimination and the workplace.  The findings of those workshops were published in the academic journal Science, which then became the foundation for policies put forth at both the state and federal levels.

Over the opposition of the insurance industry, 26 states in the U.S. passed laws barring health insurance discrimination.  At the Federal level, the Health Insurance Portability and Accountability Act (HIPAA) of 1996 specifically prohibits the use of genetic information to deny group insurance coverage when workers switch from one job to another (Holtzman and Shapiro 1998).  HIPAA, passed during the Clinton administration has been one of the most sweeping pieces of legislation concerning medical privacy. 

According to the National Human Genome Research Institute’s website , HIPAA provides the following protection:

·        Prohibits excluding an individual from group coverage because of past or present medical problems, including genetic information.

·        Prohibits charging higher premiums to these individuals..

·        Limits exclusions in group health plans for pre-existing conditions to 12 months, and prohibits such exclusions if the individual has been previously covered for that condition for 12 months or more.

·        States explicitly that genetic information in the absence of a current diagnosis of illness shall not be considered a preexisting condition.

However, HIPAA does not include the following:

·        Prohibiting the use of genetic information as a basis for charging a group higher rate for health insurance.

·        Limiting the collection of genetic information by insurers.

·        Limiting the disclosure of genetic information by insurers.

·        Applying to other health insurers if covered by the portability provision.


Under revisions for the past seven years, the new HIPAA finally went into effect April 14th 2003, and time will be the ultimate test as to the comprehensiveness of this bill.  Since the genetic revolution began, forty-one states have enacted legislation to protect against genetic discrimination in health insurance.  Thirty-one states have also passed legislation to ban genetic discrimination in the workplace.  With all this flurry of legislative activity, one might question if it is truly necessary?  Is discrimination due to genetic testing actually occurring?

This is a question that researchers have attempted to answer for the past 25 years.  Understanding the reality of genetic testing discrimination has been difficult for several reasons.  First, only a small percentage of the population actually seeks genetic counseling and testing.  Cost and lack of understanding are prohibitive factors for many individuals.   Secondly, confirming that any possible discrimination is due to genetics and not other reasons is difficult because insurance companies are not required to give the reason for denying an application.  Compounding this reason, is that the majority of people having genetic testing  have a strong family history related to the disorder/disease being tested, making the distinction of why they were denied all the more difficult.

The first case of reported genetic discrimination was in the early 1970s when several insurance companies discriminated against individuals who were carriers of sickle cell anemia, even though they were healthy at the time of testing (Lapham 1999).

A 1996 study of individuals who were at risk for developing a genetic condition or were the parents of children with a genetic condition identified more than 200 cases among the 917 people who responded (NHGRI 1998).

A second study that interviewed 332 participants representing 101 different primary genetic disorders found that 22% of respondents with a genetic condition reported that either they or other members of the family had been refused health insurance as a result of the genetic condition in the family.  40% of the 332 participants recalled being asked about any genetic disorders in the family by the insurance company.  83% of this group had been refused insurance.  13% of the respondents believed they were denied or let go from a job because of genetic test information. 

In addition to health insurance, the study also looked at the ability to obtain life insurance.  Approximately 70% of Americans have life insurance.  Typically, only 3% of general applicants are usually denied.  Of those accepted, about 5% may be required to pay higher premiums.  The study participants with genetic disorders reported 25% being refused life insurance (Lampham 1999).

Studies like these and other small studies conducted in the 1990s led the National Human Genome Research Institute in 1997 to conclude that people who might benefit from knowing their inherited risk for certain diseases may shun genetic tests or other family information because they fear their employers will use them to deny job opportunities and health insurance.

In contrast to the above examples of possible discrimination, an article in the Journal of the American Medical Association in 1999 entitled “Genetic Test Information Fears Unfounded,” compared the stories of discrimination to urban legends.  The researchers interviewed and surveyed underwriters, actuaries, and regulators at health and life insurance companies to gather their perspective on the genetic testing trend.  Mark A. Hall of the public health sciences department at Wake Forest University School of Medicine said that genetics just is not on underwriters radar screens.  He concluded that although the view from geneticists is that discrimination is a serious problem and assumed to be widespread, little or no indication of discriminatory policies or practices by insurance companies based on genetic test information was found before or after state laws were passed (Stephenson 1999). 

In surveying 296 genetic counselors, the author found that not one case of discrimination was mentioned.  Many said they had heard of discriminatory practices, but it had not been experienced by any of their clients.  Another study by Mark Hall and Stephen Rick entitled, “Laws Restricting Health Insurers’ Use of Genetic Information”,: noted the impact on genetic discrimination reported that uniformly across all branches of the industry, including Blue Cross plans, HMOs, and commercial indemnity plans did not inquire about genetic test results- and did not have a practice of using the information in their underwriting guidelines.  The authors stated that this was the case before and after state laws were enacted as well as in states where there were no genetic testing laws.  Insurers stated that their medical underwriting practices relative to genetic testing were not changed or affected prior to those laws (2000).

The above research shows conflicting evidence of genetic discrimination.  Although many states as well as the federal government have taken action to prevent such discrimination, the fear of potential discrimination due to genetic test results is still a barrier to many individuals eligible to undergo testing.


Health Policy and Genetic Testing


The Institute of Medicine states that public health has three primary functions: assessment, policy development and assurance.  Assessments are made to measure the burden of disease and its’ impact on the community.  Through surveys and surveillance systems, the population frequencies of genetic variants can better be determined.  Evaluation of these factors will alert health officials to areas where policies should be developed.  Policy Development is needed to set the standards for both the clinical and community setting, as well as society as a whole.  The success of policy development involves working with the community to better understand their public health needs and to translate them into effective public policy.  This is especially important to ensure the health of the public and to minimize problems including health insurance discrimination, population screening and privacy and confidentiality.  The third and final function of public health is assurance.  This involves accessibility to public health training, services and evaluation.  It is the task of public health to evaluate the development and implementation of health strategies. It should include up-to-date genetic information that also addresses client confidentiality and the appropriate use of genetic testing and screening services.

There have been a number of policy statements issued which attempt to articulate principles that can be used to access new genetic screening and testing programs.  One of these was initially presented over thirty years ago and is still applicable to the present day.  It deals with the need for empirical research concerning the benefits and risks of genetic testing prior to the implementation of any mass screening programs.

The National Institute of Health and the Department of Energy formed a joint Task Force on Genetic Testing.  Three broad criteria were identified that are necessary prior to using a new genetic test: analytical validity, clinical validity and clinical utility.

   Analytical validity deals with the accuracy and precision of the laboratory performance.  The genetic test must be deemed sensitive and specific prior to its introduction into clinical practice.  Clinical validity refers to the ability of the test to predict the presence or absence of a disease or to the likelihood that a disease will eventually develop.  The third criterion refers to how the test results can be used to improve a person’s health status.  It is generally accepted that a test should not done unless the benefits surpass the risks.  This third criterion implies that an assessment of both safety and effectiveness be done.  In this context, safety does not imply physical risks, but rather the potential impact that the genetic information will have on the individual and family members. It can produce anxiety and concerns, especially when faced with the possibility of discrimination or major alterations in lifestyles in the future.

    Many other aspects of genetic testing and screening need to be addressed as well; community interest in such programs, follow-up services for positive test results including genetic counseling and clinical management, and assurance of privacy and confidentiality.

     One of the greatest challenges for society as a whole and for public health professionals specifically, will be to develop procedures and policies that will maximize health benefits gained from scientific advances in genetics, while ensuring that genetic information will not be misused. 


Ethical and Social Implications


In the previous discussions, many ethical issues have come to light relative to discrimination in health insurance, employment opportunities, to the ownership of genetic data, to the assurance of confidentiality, and to the real benefits of testing.  The following sections will address these concerns more.  The insurance dilemma is actually a double-edged sword.  Because the insurance industry has been legally barred from using genetic information in determining health coverage, they have been slow in approving the coverage of genetic testing.  The costs of genetic testing for a specific disease can be quite costly, usually ranging from $400-$3,000.  Many individuals are not able to afford this amount, which has a ripple effect over society.  The fewer people using the tests, the less incentive companies have in reducing costs.

The other aspect of genetic testing that is often overlooked is that by preventing insurance companies from using genetic test results. Those individuals who test negative for a known mutation, have their risk for developing that disease greatly reduced, which also decreases their liability to the insurance company.  The costs of care, such as preventive screening, and treatment would also be reduced, saving the insurance company money.  Negative genetic test results are very informative to the individual as well as to the insurer, but by banning the inclusion of test results, the insurer will be forced to rely solely on family history and medical records. 

The mapping of the human genome held the promise that it would be possible to predict some diseases with absolute certainty as well as make a more precise estimate of the risk of others.  However, the field of genetics has not held completely to its promised potential.  Some of the diseases that can be tested for have no cure or treatment, raising the question of whether it is ethical to conduct such testing without promise of benefit.  Huntington Disease (HD) is a neurological disorder that does not usually develop until the forth decade of life, but with time the person becomes increasingly disabled.  No effective treatment is available at this time. This disease has a penetrance of 100%, meaning everyone born with this mutation will develop the disease. Children of a parent with HD have a 50% chance of carrying the mutation and developing the disease.  It is estimated that only 15% of eligible individuals have had testing for HD.  Ethicists raise the concern that promoting this type of testing without the being able to provide treatment is not beneficial to some people and may result in psychological harm.  In conjunction with this, if insurance companies have access to test results there may little incentive to insure the individual that is found to carry the HD mutation.

Cystic Fibrosis is another disease that can be diagnosed through genetic testing.  The Cystic Fibrosis mutation was the first gene identified that directly causes a disease.   In the last two decades since the gene was isolated and identified, no cure has been found.

In doing continued research, much discussion has arisen as to the ownership of genetic information, and who has the rights to any benefits that may come from the discovery of its relation to disease.  Families with a history of a specific disease that participate in genetic research may feel neglected once the mutation has been identified and the DNA code is patented.  Companies that patent genetic codes will then hold the rights to all testing for that specific disease. They may also have the ability to charge any price for the testing.  Because the majority of genetic testing is paid out of pocket by patients, bypassing insurance companies, this further alienates the population the test was designed to help.

The genetic revolution of the twenty-first century will not be deterred.  The issues surrounding gene testing, including insurance discrimination, health policy, and ethical dilemmas will need further debate and discussion.  However it is clear that technological advances do not wait for the social and political concerns to be resolved.  Instead, science continues to move further, changing the field of medicine, and the world itself.  We, as a society must never lose sight that the benefits of gene testing, and medicine in general will only extend as far as their acceptance and approval by the people it is intended to help.


A Few Helpful Websites:  This website is funded by National Institutes of Health, Health Resources and Services Administration and The US Department of Energy.  The genetic information provided is suitable for patients, clinicians and families.  The content spans from genetic testing and its use in diagnosis, management, and genetic counseling to its GeneReviews section, which details nearly 200 genetic diseases.  This website is a fully searchable on-line genetic textbook Funded by The National Center for Biotechnology Information, National Library of Medicine and The National Institutes of Health.  It provides concise information on genetic diseases, with many external links to other sites and databases.  These sites include The Online Mendelian Inheritance in Man (OMIM), PubMed and Locus Link, which provides a graphical view of human sequence data. The Genetic Education Materials (GEM) Database is part of the National Newborn Screening and Genetics Resource Center.  The website is funded by the Health Resources and Services Administration, Maternal and Child Health Bureau.  The database contains a searchable catalog of clinical and public health genetics policy information and educational materials This website, The Frequency of Inherited Disorders Database (FIDD), is sponsored by The University of Wales College of Medicine.  It contains a total of 1580 published records structured into groups of inherited disorders according to body systems.  It is appropriate for medical; researchers, clinicians, epidemiologists and those seeking more information on the overall prevalence of a particular genetic disease. The Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies website is written by Dr. Borgaonkar and provides a database of nearly 23,000 citations.  It is intended for researchers, physicians and other health care professionals interested in genetic disorders. 


List of 50 Genetic diesease/syndromes:  (This is not a comprehensive list)



Alopecia areata



Coffin-Lowry Syndrome

Cystic Fibrosis

Down Syndrome


Familial Adenopolyposis Syndrome

Fragile X Syndrome

Gardner Syndrome



Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hirschsprung anomaly

Huntington Disease

Joubert syndrome

Kabuki syndrome

Klinefelter syndrome

Leigh disease

Lowe syndrome

Maple syrup urine disease

Marfan syndrome

Mental retardation

Muscular Dystrophy

Nager and Miller syndromes

Niemann-Pick disease

Osteogenesis imperfecta

Pallister-Killian syndrome


Polycystic Kidney disease

Prader-Willi syndrome

Proteus syndrome

Refsume disease

Rett syndrome

Sickle Cell Anemia

Skeletal dysplasia

Sotos syndrome

Spina bifida



Tourette Syndrome

Trisomy 18

Turner syndrome

Usher syndrome

Vater association

Waardenburg syndrome

Wilson disease

Xeroderma pigmentosum

Zellweger syndrome





Allele9:  Alternative form of a genetic locus; a single allele for each locus is inherited from each parent.

Bioinformatics9:  The science of managing and analyzing biological data using advanced computing techniques; it is especially important in analyzing genomic research data.

Biotechnology9:  A set of biological techniques developed through basic research and now applied to research and product development. In particular, biotechnology refers to the use by industry of recombinant DNA, cell fusion, and new bioprocessing techniques.

BLAST9:  A computer program that identifies homologous (similar) genes in different organisms, such as human, fruit fly, or nematode.

Chromosome8:  1. A threadlike linear strand of DNA and associated proteins in the nucleus of eukaryotic cells that carries the genes and functions in the transmission of hereditary information. 2. A circular strand of DNA in bacteria that contains the hereditary information necessary for cell life.

DNA (deoxyribonucleic acid)9:  The molecule that encodes genetic information. DNA is a double-stranded molecule held together by weak bonds between base pairs of nucleotides. The four nucleotides in DNA contain the bases adenine (A), guanine (G), cytosine (C), and thymine (T). In nature, base pairs form only between A and T and between G and C; thus the base sequence of each single strand can be deduced from that of its partner.

Gene8:  A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their DNA sequence changes.

Gene chip technology9:  Development of cDNA microarrays from a large number of genes. Used to monitor and measure changes in gene expression for each gene represented on the chip.

Gene expression9:  The process by which a gene's coded information is converted into the structures present and operating in the cell. Expressed genes include those that are transcribed into mRNA and then translated into protein and those that are transcribed into RNA but not translated into protein (e.g., transfer and ribosomal RNAs).

Genome8:  1. The total genetic content contained in a haploid set of chromosomes in eukaryotes, in a single chromosome in bacteria, or in the DNA or RNA of viruses. 2. An organism's genetic material.

Genetic counseling9:  Provides patients and their families with education and information about genetic-related conditions and helps them make informed decisions.

Genetic discrimination9:  Prejudice against those who have or are likely to develop an inherited disorder.

Genetic screening9:  Testing a group of people to identify individuals at high risk of having or passing on a specific genetic disorder.

Genetic testing9:  Analyzing an individual's genetic material to determine predisposition to a particular health condition or to confirm a diagnosis of genetic disease.

Heterozygote8:  An organism that has different alleles at a particular gene locus on homologous chromosomes.

HIPAA:  A federal regulation passed as of 1996 to inform consumers and ensure patient’s privacy rights.

Homozygote8:  An organism that has the same alleles at a particular gene locus on homologous chromosomes.

Microarray9:  Sets of miniaturized chemical reaction areas that may also be used to test DNA fragments, antibodies, or proteins.

Molecular medicine9:  The treatment of injury or disease at the molecular level. Examples include the use of DNA-based diagnostic tests or medicine derived from DNA sequence information.

Mutation: a genetic alteration that produces a change in the DNA code usually resulting in a harmful effect.

Penetrance9:  The probability of a gene or genetic trait being expressed. "Complete" penetrance means the gene or genes for a trait are expressed in all the population who have the genes. "Incomplete" penetrance means the genetic trait is expressed in only part of the population. The percent penetrance also may change with the age range of the population.

Pharmacogenomics9:  The study of the interaction of an individual's genetic makeup and response to a drug.

Phenotype9:  The physical characteristics of an organism or the presence of a disease that may or may not be genetic.

Proteomics9:  The study of the full set of proteins encoded by a genome.


Sequencer8:  An apparatus for determining the order of constituents in a biological polymer, usually DNA or protein.

Trait8:  A genetically determined characteristic or condition.


   8 The American Heritage® Dictionary of the English Language: Fourth Edition. 2000.

    9 Human Genome Program, U.S. Department of Energy, Human Genome Project Information Web site.





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