Ethical Questions Raised As NIH Funds Genetic Screenings Of Infants

How can we use science responsibly without collapsing into a science-fiction future of genetic discrimination?
By @FrederickReese |
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    The goal of newborn genome screenng is to find out whether such testing brings better health care or unwanted information overload. (Photo/Lisa Rosario via Flickr)

    The goal of newborn genome screening is to find out whether such testing brings better health care or unwanted information overload. (Photo/Lisa Rosario via Flickr)

    In the 1997 science-fiction film “Gattaca,” society has divided itself along genotypic lines. The setting: After DNA extraction and mapping became both instantaneous and common, employers started to discriminate between “valids” — those considered to have ideal genes and are more likely to be physically and mentally healthy — and “in-valids” — those whose genotype indicates susceptibility to disease, intellectual inferiority or disabilities that may affect quality and length of life. While this discrimination was explicitly banned by the government, it created a society of “haves” and “have-nots” so pervasive that parents screened future children at conception to ensure genetic perfection.

    Such a future may be the stuff of fiction, but recently the federal government has taken steps that may be moving things in that direction. The National Institutes for Health’s National Human Genome Research Institute has announced the receipt of funding toward an “ambitious set of studies” into what happens if the full genome of newborns is screened. The NHGRI is seeking to determine if access to this information will allow for the prediction of potential health disorders early — leading to better health care — or if the information would be overwhelmingly cumbersome and impractical to use.

    The human genome represents a massive amount of data. On the 23 pairs of chromosomes a human cell typically carries, there are about 3 billion base pairs. A gene is a cluster of base pairs that produce a specific characteristic in a person. According to genetic research done in the 1970s, between 60 and 65 percent of a person’s genes are unique to the person. The remainder are repeated throughout the species, but aren’t necessarily expressed in everyone.

    Across the country, thousands of parents will learn the nature of their child’s being as members of the NIH-funded trial. A key component of this experiment will be the parents’ reactions. A tendency to “freak out” upon receiving this information may lead researchers away from recommending genetic mapping as part of the post-natal care protocol.

    “Everything is moving so fast,” said Dr. Eric Green, director of the NHGRI, to reporters on a conference call. Green is primarily concerned with the proliferation of commercial genetic mapping services and the danger in allowing business interests to control this science.

    “We really want to take advantage of this window of opportunity to answer key questions about the technical, ethical, social implications while we have a chance to do it,” Green added. “If it turns out this is something that is worth doing, we would answer questions about how to make it most effective.”


    Mapping DNA

    The NHGRI and the National Institute of Child Health and Human Development will spend $25 million over the next five years toward making their determinations, starting with trials at Brigham and Women’s Hospital and Boston Children’s Hospital; Kansas City’s Children’s Mercy Hospital; the University of California at San Francisco and the University of North Carolina at Chapel Hill. Each hospital is free to approach genetic extraction from whatever direction is practical. For example, UCSF will utilize the heel prick test newborns receive as a screen against genetic disorders for the trial’s DNA extraction. Boston’s Children Hospital, however, will take unique blood samples from “volunteers” starting next year.

    One of the diseases the heel prick test screens for, phenylketonuria, for example, would be an ideal target for DNA screening. “By knowing the baby has the disease early, parents can modify the baby’s diet to remove phenylalanine and prevent damage,” said Dr. Alan Guttmacher, director of NICHD. “Prevention is the only effective solution.” Heel prick tests detect a buildup of phenylalanine. Depending on the acuteness of the disease in the child, there may not be enough of the compound present to detect.

    Currently, the cost of genetic testing is the only impairment to wider commercial saturation. While genealogical DNA testing is available for a few hundred dollars, these tests do not offer a complete genetic profile;  medical- or diagnostic-grade mapping costs in excess of $5,000 per test.

    “We believe that 30 percent of the babies in our NICUs [neonatal intensive care units] are likely to benefit from next-day genome sequencing. This grant will generate the critical data to guide the use of rapid genome sequencing in the diagnosis and treatment of acutely ill babies,” said Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy.

    The ethics of genetics

    All of this, however, begs difficult questions.

    First off, there is reason to doubt the abilities of the NIH to ethically conduct genetics trials. For example, in the 1950s, NIH researchers extracted cells from the biopsy of the cervical tumor of Henrietta Lacks, an African-American woman. Lacks’ cells were the first human cells that could grow and multiply in lab dishes. Descendants of the cultivated cells exist in labs throughout the world. Her seemingly “immortal” cells have been used in biomedical research ranging from Parkinson’s disease, in vitro fertilization and polio vaccine development. The cells had led to more than 74,000 scientific papers.

    The problem is that the NIH never asked permission to use Lacks’ cells. The organization has since entered an agreement with Lacks’ family to seek permission for continued use of the cells, but this agreement only applies to NIH-funded research. Since the cells have been shared with labs outside of the NIH’s control and details on the cells have already been published — including the cells’ genome — there is little that can be done in retrospect.

    Second, the publication Science 2.0 profiled the case of an Australian man who was denied full life insurance coverage due to a discussion of genetic testing with a genetic counselor. Once tested, he was found to be carrying a mutation of the MSH6 gene. After this was disclosed, three different insurance companies denied him coverage for cancer. The man’s story was used as a case study at the School of Population and Global Health at the University of Melbourne.

    “This case presents evidence that life insurance companies have made incorrect risk-assessment judgments based on genetic information,” said Dr. Louise Keogh, lead author of the case study. “In addition, we have previously found that the fear of such discrimination can act as a deterrent to genetic testing.”

    The Council for Responsible Genetics has chronicled other cases of genetic discrimination, including the case of one “Danny,” seven, who — following a genetic map showing his predisposition to heart disorders — is ineligible for health insurance because his genetic defect qualified as a “pre-existing medical condition.” Another case is that of “Kim,” a social worker who, upon sharing in a staff workshop that her mother died of Huntington’s disease, was fired based on her risk status. “Lisa” suspected that her son had a learning disability. After being genetically tested, her son was diagnosed with Fragile X Syndrome, a form of mental retardation. Lisa’s son was dropped from his health coverage and ultimately, Lisa was forced to quit her job to become eligible for Medicaid after being turned down by every insurance company she applied to.

    “Not only is this discrimination unjust, it is scientifically inaccurate,” the Council for Responsible Genetics wrote on its position page. It continued:

    Genes can tell us only part of the story about why some people get sick and others do not. Even if we were able to know exactly what genes a person has, we still would be unable to predict their future health needs. This is because many genetic tests predict — with limited accuracy — that a disease may become manifest at an undetermined time in the future. Because the severity of many diseases—such as sickle cell anemia and spina bifida — varies widely among individuals, a genetic prediction cannot foretell how disabling the disease will be for a specific person.


    Genetic discrimination and the “Gattaca Argument”

    Genetic discrimination is illegal under United States law. The Genetic Information Nondiscrimination Act of 2008 makes it a felonious act to actively access personal genetic information for the purposes of making employment or health insurance decisions.

    This, however, does little to protect against other types of insurance discrimination or prevent discrimination against those with observable symptoms. Most importantly, this law does not address or rectify a “logical loophole” many insurance companies tend to employ.

    There are many classifications of protected information that an insurance company cannot access or inquire about, including employment history, criminal record and sexual preference. To get around this, the insurance company asks for the information with the understanding that disclosure of the information is “optional.” In reality, failure to disclose the information will lead to denial of the application — but, if questioned, the marking of the request as “optional” will meet legal requirements that the disclosure was not forced.

    According to the Equal Employment Opportunity Commission, in fiscal year 2012 there were 280 reported cases of genetic employment discrimination. This is an increase from 2011’s 245 cases and 2010’s 201 cases. Importantly, 187 of 2012’s cases were found to have “no reasonable cause” for the termination or denial of employment.

    So, if someone forms a new way to separate and classify people, would it be fair to expect no one to use it? There is a fear that the worse nature of humanity could use such knowledge for gain. Ethicists call this “the Gattaca Argument.” Proactive and reactive selection and repression based on genetics can force a “genetic divide,” a social stratification similar to the socioeconomic divides current society already has.

    There must be an open discussion about what it means to be human and the dangers of genetic discrimination, both with genotypic descriptions and in the immutable expressions of the genotypes — the differences that make a person unique.

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