Research in genetics and genomics is rapidly leading towards clinical applications and has already resulted in new genetic tests becoming available for many conditions. Some genetic tests are offered on a routine basis through commercial laboratories; some are available only through carefully controlled research or clinical protocols; an increasing number are being made available directly to consumers (called direct to consumer genetic testing). Types of genetic testing include prenatal, newborn screening, carrier screening, and diagnostic testing, as well as predictive or presymptomatic testing to detect gene mutations which lead to conditions that occur later in life (such as Huntington disease or polycystic kidney disease) or to detect genes which may predispose to disorders such as heart disease, cancer or Alzheimer disease.
While there can be many health benefits of genetic information in the identification and treatment of disease, the risks of genetic tests are usually not physical, but are psychological, financial and social. Ethical concerns occur at the individual, family and societal levels. Specific concerns of the use of genetic information and testing center around privacy and confidentiality, the provision of informed consent which adequately provides information about risks and benefits of testing (McGuire & Gibbs, 2006
), the appropriate uses of prenatal diagnosis, use of testing to predict the future onset of diseases for which there may be no prevention or treatment, and discrimination in employment and insurance (Arnos, 2003
). Testing for genes which predispose to complex or multifactorial conditions such as communication disorders carries with it additional concerns. The genetic complexity of most diseases tends to lessen the predictive power of genetic tests for predisposing genes, particularly regarding aspects which seem to be the most important to patients, such as predicting the severity and time of onset of the disease as well its treatability (Juengst, 2004
). Early identification of these genetic variants in people who may or may not go on to actually develop the disorder in question may lead to social and medical stigmatization and discrimination related to employment and health insurance. In response to concerns regarding employment and insurance discrimination based on the results of genetic testing, many states and the federal government have now enacted legislation that restricts the use of genetic information by insurance companies and bans the use of genetic screening for employment decisions (NHGRI, 2007
An overriding issue is the provision of genetic counseling as part of the genetic testing process, so that accurate information is conveyed pre- as well as post-test, especially concerning the predictive power of tests for complex disorders. Families and clinicians are very motivated to understand the cause of neurodevelopmental, speech, hearing and language, and other disorders which have no clear familial pattern. Priorities are to have tests with clear diagnostic and predictive value that may lead to better treatment and allow prenatal detection of disorders. As genetic tests become more common and are increasingly ordered by primary care providers for their patients, problems arise with the lack of pre- and post-test genetic counseling by qualified professionals. The value of competent genetic counseling cannot be overestimated, particularly when testing for genes which predispose to multifactorial disorders and which may confer only a small risk of disease or for which the precise risk of disease may not even be clearly known. An extreme example of the potential danger of the disconnect between genetic testing and pre- and post-counseling is direct to consumer genetic testing (Lewis, 2007
). Commercial genetic testing laboratories are now marketing genetic tests for breast cancer (BRCA1
), hemochromatosis, and cystic fibrosis as well as non-clinical tests for nutrition, aging and behavior directly to consumers (NHGRI, 2004
). Direct to consumer marketing has been shown to lead to inappropriate test utilization, misinterpretation of test results, and lack of necessary follow-up. The limitations of genetic testing are rarely accurately conveyed via print and television advertisements. An increasing number of companies are now using the Internet to market genetic tests to consumers and a variety of “home testing” kits are now available. The rapid increase in direct to consumer genetic testing in recent years has prompted the American College of Medical Genetics to issue a position statement on this practice regarding the potential harm of genetic tests for which no appropriate pre- and post-test genetic counseling is provided (ACMG Board of Directors, 2004
Problems with misunderstandings about the clinical power of genetic tests may be exacerbated by the language and hype in the professional scientific literature and in the media which is used to describe research about the identification of genetic factors in complex disorders. An example is research on autism, an extremely heterogeneous disorder that occasionally (about 10% of cases) has a single gene or chromosomal etiology (e.g. fragile X or Rett syndrome, tuberous sclerosis, chromosome 15q11–q13 duplication). Autism is largely a multifactorial disorder with a strong genetic component, caused by susceptibility genes and environmental factors that remain largely unknown (Herman et al., 2007
). A recent review of the ethical concerns related to the identification of genetic variants that may contribute to or predispose to disorders with complex inheritance examined recent literature describing research in autism (Tabor & Cho, 2007
). The research examined a recently developed technique known as array comparative genomic hybridization to examine copy number variants that may be associated with autism. Tabor and Cho identified substantial inconsistency for evaluation of causal criteria for genetic variants, which often led to overstatement of the causal nature of variants that were thought to be associated with autism. The use of more cautious language was advised when describing causation, to avoid misinterpretation of the predictive value of these variants by clinicians, families and the media. Ethical concerns were also raised about specific research criteria related to study design, including selection of the population and sample size, which have an important impact on determining causality and the generalizability of results.
Prominent bioethicists have contended that the enduring ethical concerns of genetic information go beyond the issues mentioned above. Four fundamental and enduring moral concerns in genetics are identified by Juengst (2004)
; genetic information can disclose essential secrets about individuals which can affect their identities in terms of familial role, ancestral origin, community memberships, and ethnic affiliations. Some argue that ethical problems in genetics are time limited and will resolve as genome medicine catches up with genome science, however, “the basic social challenges of genetic information are not the clues it can give us about future health risks. . . as long as people use familial role, ancestry, community membership or ethnic identity as indicators of social standing, genetic information will continue to be socially potent” (Juengst). As mentioned above, the recognition of these risks prompted federally funded projects such as the International HapMap Project and the Human Genome Project to devote a significant proportion of their budgets to community education and discussion with community members regarding the role of genetic testing in defining or challenging community membership, ethnic identity or familial roles.