The Ramazzini Institute
for Occupational and Environmental Health Research   

Who Are We?

Nancye Buelow
Genetic Discrimination: The Alpha-1 Case

      As our nation struggles to understand genetics and many of the ethical, social and legal issues associated with it, many people like myself are standing on the sidelines anxiously anticipating how this will affect our lives.  What is genetic discrimination?  Does it really exist?

     The fear of genetic discrimination certainly exists.  Soon scientists will be able to identify a multitude of genetic abnormalities that may cause disease. Pilot studies and a survey by the Genetic Alliance have already told us that consumers are being discriminated against now. Just as we witnessed the Supreme Court battles for civil rights during the last half of the twentieth century, this new century will hurl us into new arenas of genetic privacy battles.

    The face of medicine is rapidly changing, with the near-completion of the Human Genome Project.  This government endeavor, originally coordinated in 1990 by the Department of Energy and the National Institutes of Health (NIH), is a 15-year study commissioned to identify and sequence map all the 100,000 plus genes that make up the DNA in the human body.  In the private sector, Celera Genomics is the leader in this same DNA sequencing.  Celera scientists have accomplished many of their goals with startling speed and may complete the sequence two years early.  The White House was the setting for the joint announcement of the completion of the mapping of the Human Genome on June 26th 2000.

     The celebration was unparalleled; however there was one glaring omission.  The United States Congress had not worked at the same pace to put federal provisions in place to protect Americans from having their genetic information used against them in the workplace or by healthcare providers.

     What does this mean for those who have a predisposition for a genetic disorder?   What does it mean for those with symptoms that were diagnosed as a genetic disease?  And most importantly, what will this mean for our children and grandchildren?

    For me, it was disquieting because I was identified with a genetic disorder called Alpha-1 (www.alpha1.org).  Alpha-1 is a genetic disorder that can affect the lungs and or liver of adults and children.  A person with the gene indicator for Alpha -1 will not necessarily become symptomatic, unlike patients with some other genetic diseases such as Huntington’s and Cystic Fibrosis.  Because of the fear of genetic discrimination many Alphas carrying the disorder have not chosen to be tested or identified.

     An Alpha-1 patient named Terri Seargent has one of the most obvious genetic discrimination cases in the country at this time.  Terri, who lost a 30-year-old brother to Alpha-1, was identified as having the disorder last year.  As a preventative treatment her doctor put her on a plasma augmentation therapy used to slow the progression of lung damage.   Shortly after receiving the bill for her first treatment, her employer, who self-insured, abruptly fired her, in spite of the fact that she continued to perform her job, in a manner, which her employer had always referred to, as exemplary.

     There are hundreds of cases like Terri’s in the genetic community and others like her that are afraid to be tested for fear of that kind of genetic discrimination.   There are others who, although totally non- symptomatic cannot get private health or life insurance because of a predictive genetic disorder.  At this time there are at least 30 individuals who have stepped forward to tell of similar stories. However the Alpha 1 Association fears that there are thousands that are afraid to be tested fearing genetic discrimination to themselves and their families.

     Because of stories like Terri Seargent’s, the Coalition for Genetic Fairness (www.nationalpartnership.org/healthcare/genetic/coalition.htm) was formed.  The Coalition for Genetic Fairness is an alliance of civil rights, consumers’ and lay advocacy organizations like the Alpha-1 Association, created to urge Congress to pass comprehensive federal legislation outlawing genetic discrimination. Susannah Baruch, of the National Partnership of Women and Families, gave testimony on July 20thy to the Senate on the urgent need for federal legislation. [http://www.nationalpartnership.org/healthcare/genetic/senatetestimony.org/] Current federal and state laws do not provide the protections needed to prevent employers and insurers from denying health coverage or job opportunities on the basis of genetic information.  The Genetic Alliance (http://www.geneticalliance.org/) is another national coalition of lay advocacy and professional organizations coming together to work to insure that all of our genetic information will be kept private.

    Federal legislation prohibiting genetic discrimination is long overdue.  We must have a bill in the House and the Senate that will cover the following principals: 

• Coverage/Definitions: Legislation must cover all genetic information - including family history - that predicts future health risks in otherwise healthy individuals. 
• Scope: Legislation must prohibit both health insurers AND employers from collecting predictive genetic information and from using it to discriminate in the health care system and the workplace.
• Strong Enforcement: Legislation must provide individuals who experience genetic discrimination the right to seek redress through legal action, with access to meaningful remedies.
• Privacy/Disclosure:  Legislation must ensure that those entities holding genetic information about individuals will not disclose it to third parties without the permission of individuals. 

    The current administration is taking steps to promote understanding of these issues by appointing the Secretary’s Advisory Committee on Genetic Testing (SACGT).   There are ethicists, scholars, physicians, lawmakers, industries and consumers all over the country who are watching as the genetic discrimination issue unfolds.   There is a groundswell of grassroots activity in all 50 states demanding protection.

    Genetic conditions are universal.  Every man, woman and child has genes and the potential implications that they might carry.  We must demand that our legislators put aside their party strategies and do what is right for the citizens of this country.  We cannot proceed without laws protecting our genetic legacy.  The future is in our hands.  Let’s be careful with it!

* Nancye Buelow was diagnosed with Alpha-1 (alpha-1 antitrypsin deficiency) in the spring of 1993 at the age of 40. She is President of the Alpha 1 Association (www.alpha1.org), Secretary of the Genetic Alliance (www.geneticalliance.org), co-founder of the Coalition for Genetic Fairness, and an advocate for those identified with Alpha -1 and other genetic disorders.