NEW YORK (GenomeWeb News) – Non-invasive fetal testing technologies for identifying genetic diseases and variations for a range of traits and characteristics are on their way and could in a few years present a number of thorny ethical, social, and even political issues, according to a new policy paper by a Stanford University bioethicist.
Testing tools that use free-floating fetal DNA from the mother's blood are currently being developed that will provide prospective parents with an array of gene-based information about their expected child. This information will open up a unique box of issues and choices, and policy-makers should start preparing for their arrival now, according to Henry Greely, director of Stanford's Center for Law and the Biosciences and Professor of Genetics at Stanford School of Medicine.
The recent news that a test based on mother's blood could detect Down's syndrome in fetuses is just the beginning, according to Greely.
Other new studies have begun showing the effectiveness of using cell-free fetal DNA testing to detect missing or extra chromosomes and aneuploidies, and the likelihood looms that these technologies will be used to test an unlimited number of fetal traits, Greely wrote in a recent article in Nature.
Researchers focused on non-invasive prenatal genetic diagnosis (NIPD) are already working with two companies, Sequenom and Artemis Health, to develop tests using NIPD to detect aneuploidies. "Commercial development of these methods seems likely within five years," he wrote.
Greely sees a number of complex ethical and social questions that could stem from the common availability of NIPD tests, as well as public controversies that will arise over the ways such tests are used.
Fears and controversy could swell over a gamut of ethical questions that can test the definitions of humanity, particularly questions about the use of abortions based on information from test results.
"Some people will be concerned about technologies that prevent the birth of people with particular disabilities, both for the message that might send about the worth of those who are disabled and for its practical effects on research, treatment, and support for those with disabilities," Greely wrote.
"And the specter of eugenics will loom over the whole discussion. Some will oppose parental choices about the characteristics of their babies; others will worry that parental choice will be influenced, or trumped, by the decisions of governments, health-care systems or other institutions," Greeley wrote.
Fears about eugenics will increase as NIPDs are used not only for fatal or serious diseases, but to identify less serious conditions and non-medical characteristics that parents eventually could potentially be used in decisions about abortions, such as skin, hair, and eye color, or cognitive or physical abilities, Greely wrote.
For example, he suggests that the "dramatic skewing " of live birth sex ratios in China and India brought about by cheap ultrasounds will become "more immediate and more important with widespread NIPD."
Greely told GenomeWeb Daily News today that the difference in public views of these tests may have to do with how widely they are used and how often they are used to test for mendelian traits and specific characteristics, as compared with general fetal sex testing, which is already being done.
"I think this is one of those examples of a difference in degree amounting ultimately to a difference in kind. In 1900, there were a thousand automobiles and they were a curiosity; in 2000, there were a half billion in the world and they had physically changed the planet," he said.
Currently, prenatal genetic testing is quite rare, limited to around one or two percent of women, and its range of tests is limited.
"It's limited in the number of women who get it and the number of things looked for. This explodes both limits," he told GWDN.
The biggest factor in how such tests are used and viewed may have to do with the regulatory environment that surrounds them. In the US, genetic tests are currently largely unregulated, although the labs that analyze them are in some ways. However, the Department of Health and Human Services has been considering regulating some tests through the Food and Drug Administration.
Some early steps have been taken in Europe to begin studying NIPD-related issues, including a European Union consortium called the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network that addressed some ethical issues, and a report was issued by the UK Foundation for Genomics and Population Health.
"Regulators, companies, and consumer advocates need to be talking about pathways for assuring the safety, efficacy, and quality of NIPD testing," Greely urged. In the US, he wrote, the FDA "should start that process immediately."
"Under the current regulatory landscape, there most likely would be no FDA regulation for [NIPDs]. But that landscape has been thrown into uncertainty … and it is unclear if it will stay unregulated," Greeley told GWDN, referring to steps taken by FDA to block Walgreen's stores from selling a Pathway Genomics test and measures to potentially regulate laboratory-developed tests.
"If there's no FDA approval required, [commercial NIPD tests] could go live very quickly," he said.
Greely also argued in the paper that "it is time for ethics commissions, such as the US Presidential Commission for the study of Bioethical Issues, to report on these issues."
In the US, for now, he said, "We seem to be almost completely clueless about it," he said.