[Source: Amy Lynn Sorrel, AMNews] – It’s amazing what someone can get these days with a credit card and a spit sample. For a drop of saliva or blood and up to a few thousand dollars, more companies promise to unlock the mysteries of human health by profiling patients’ genetic predisposition to a variety of common conditions.
Genetic testing is not just for rare diseases anymore. Clinical tests are available, through more traditional routes such as physicians, genetic counselors and labs, for more than 1,300 diseases, with several hundred more under research, according to the National Institutes of Health.
Such is the rapidly evolving world of so-called personalized medicine — tailoring treatment options based on patients’ genetic tendencies. While the trend can prompt awareness of genetic conditions and encourage patients to take charge of their health care, it also portends a world of potential legal liability for physicians, experts say.
“The standard of care — medical and legal — is changing, and there’s a lot more to know these days about genetic technologies,” said Lynn Fleisher, PhD, general counsel for the American College of Medical Genetics. “It’s the duty of physicians to know about the information and communicate the results of that knowledge to patients.”
But doctors may not be prepared. In an April study on the potential for increased regulatory oversight of genetic testing, the Dept. of Health & Human Services Secretary’s Advisory Committee on Genetics, Health and Society suggested that many physicians and health professionals lack the training and expertise to facilitate and interpret tests. The panel, like many doctors, also questioned the validity and usefulness of some emerging technologies.
Some genetic tests — such as those used in well-established newborn screenings and cancer diagnoses — are regulated by the 1988 federal Clinical Laboratory Improvement Amendments. CLIA established quality standards for labs performing high-complexity tests and required supervision by a licensed doctor or certified geneticist. Only manufactured tests sold directly to labs are monitored by the Food and Drug Administration as medical devices.
But experts say federal regulations ignore the latest generation of testing that purports to predict a patient’s susceptibility to health risks based on genetic markers. Despite increased research and awareness of such testing, its effectiveness and accuracy remain largely unconfirmed in science. Meanwhile, more of these tests are marketed directly to consumers and have raised concerns among the medical community, the FDA and the Federal Trade Commission that the tests are misleading.
It is in this milieu that physicians may find themselves vulnerable to liability risks, said Gail H. Javitt, JD, MPH, law and policy director at the Genetics and Public Policy Center at Johns Hopkins University. “In the absence of regulatory mechanisms for the introduction of new tests into clinical practice or clinical guidelines, it is difficult for physicians to discern when a test has reached the standard of care or whether it should,” Javitt said.
Family physician Jacqueline A. Chadwick, MD, recently found herself facing such questions.
On two occasions, patients asked about genetic testing because a family member was diagnosed with a disease. After researching medical literature, Dr. Chadwick found that testing might be helpful in one of the cases and referred the patient to a genetic counselor. In the other case, however, Dr. Chadwick discovered little scientific support to show that testing would be beneficial and informed the patient.
“Now that the industry is recommending patients get genetic testing, they are going to expect physicians to use [their genetic profile] to define their entire health,” said Dr. Chadwick, associate dean of clinical affairs at the University of Arizona College of Medicine. As access increases, “the question is what do we [as physicians] do with that information?”
American Medical Association policy recommends that genetic testing be carried out under the personal supervision of a qualified health care professional. The AMA is working to educate physicians and society about the lack of scientific validity of certain genetic tests and supports enhanced federal oversight, including oversight of direct-to-consumer tests.
Without firm guidelines on emerging technologies, the courts may be left to decide the standard of care.
Javitt pointed to a 2006 New Hampshire Supreme Court ruling in a case in which a couple sued Dartmouth-Hitchcock Medical Center for failing to detect their child’s rare chromosomal disorder. Justices found that the doctors had adequately used routine screenings and informed the couple of the risk of congenital anomalies. Although additional genetic testing was available to detect this child’s anomaly, the court declined to expand the standard of care.
Genetic advancements also could force courts to re-evaluate existing legal remedies, said Massachusetts attorney Susan L. Crockin, who focuses on reproductive genetics. “It’s not clear what form claims are going to take and where we might see changes in the law,” she said.
For example, case law in about 25 states recognizes wrongful birth claims. These claims allow parents of a child born with disabilities to argue that they lost their right to terminate the pregnancy after a doctor failed to detect and inform them of genetic anomalies. States that prohibit such actions still may allow plaintiffs to sue for medical negligence, or begin recognizing wrongful birth claims, Crockin said. As genetic testing proliferates, “state-by-state interpretation is going to be up for scrutiny,” she said.
Among the first legal tests was a 2006 case in which a child was born in Maryland with a genetic anomaly, but the fetal test was interpreted in North Carolina. The Maryland Court of Appeals, the state’s highest court, allowed the child’s parents to sue the lab under Maryland’s wrongful birth law, even though North Carolina law did not recognize the claim.
Pharmacogenomics also could pose legal concerns for doctors, said Gary E. Marchant, PhD, executive director at Arizona State University’s Center for the Study of Law, Science and Technology.
More drug companies are investigating whether genetic testing can help determine a patient’s response to medication. Last August the FDA allowed the manufacturers of the blood thinner Coumadin (warfarin) to change their labeling and advise physicians that genetic testing may help with dosing and reduce known drug complications.
Patients harmed by a drug could sue their doctor for failing to order such tests before prescribing, Marchant said.
Meanwhile, courts have varied in their opinions on whether doctors have an obligation to warn a patient’s family members about discovered genetic risks, legal observers said.
And other ethical questions have yet to be tested in the courts.
For example, physicians who object to genetic testing in certain circumstances based on their personal beliefs may face challenges, said Denise M. Burke, vice president and legal director at the anti-abortion group Americans United for Life. Only three states — Illinois, Mississippi and Washington — have right-of-conscience laws protecting doctors who avoid genetic testing or any associated procedures for religious or moral reasons. Statutes in a majority of states apply only to abortion.
The role of regulation
A major step toward easing physicians’ and patients’ concerns over misuse of genetic test results was the Genetic Information Nondiscrimination Act, signed by President Bush in May. The AMA supported the measure, which prohibits health insurers and employers from using genetic data in coverage and employment decisions.
The statute is expected to speed demand for genetic testing. But regulations to implement the law still are under development and could face scrutiny in court, experts note.
Fleisher said the American College of Medical Genetics had received numerous calls from physicians about whether patients can pay out-of-pocket for genetic testing, fearing their insurers would abuse the information. While there’s nothing wrong with having patients paying on their own, “the test results should go into the medical record,” she said. State record laws vary, and in some circumstances federal laws, such as HIPAA, may be implicated. Patients also may have disclosure requirements in their insurance agreements.
Many physicians and legal experts alike agree that federal regulation that is aimed at ensuring high-quality, clinically useful genetic testing could help close some of the gaps that challenge doctors and patients alike as they try to keep abreast of the latest new developments.
“Genetic technology is rapidly advancing and has the potential to greatly impact patient care,” AMA Executive Vice President and CEO Michael D. Maves, MD, MBA, wrote in a 2007 letter to the HHS Secretary’s Advisory Committee on Genetics, Health and Society. “Properly regulating genetic tests used in the clinical setting will maximize benefit and reduce harm to patients.” At the same time, such regulations “should not restrict a physician’s diagnostic and therapeutic options,” Dr. Maves wrote.
How oversight takes shape remains to be seen. Some medical specialty societies, such as the ACMG, offer educational programs and favor professional, not regulatory, supervision. The HHS committee made several recommendations, including increased quality standards for labs, greater FDA oversight, and ongoing evaluations of testing by public and private entities.
Until such changes are achieved, legal experts recommend that physicians disclose to patients what they know about genetic test options. When unsure, doctors can seek help from a genetic counselor.
But doctors are likely to play a much more direct role, said family physician W. Gregory Feero, MD, PhD, chief of the Genomic Healthcare Branch at the NIH’s National Human Genome Research Institute. “We are now seeing applications and tests … for things clinicians see on a daily basis,” from asthma to diabetes to cancer, he said. As the standard of care evolves, “when you explain something to a patient, to leave [genetics] out of the discussion is to leave out fundamentals.”