JHMI Office of Communications and Public Affairs

April 4, 2003

MEDIA CONTACT: Monique Harris
PHONE: 202-633-5979
E-MAIL: mharri40@jhu.edu

Johns Hopkins Center Calls For Stricter Controls For Genetic Testing

Genetic testing to detect carriers of cystic fibrosis (CF) is being routinely offered to many couples seeking prenatal care. Recent reports in the medical literature indicate that guidelines for safe and appropriate testing are not always being followed.(1)

The American College of Obstetricians and Gynecologists (ACOG) recommended in 2001 that physicians offer all couples who are pregnant or planning to become pregnant a blood test that can reveal whether one or both partners carries a mutation in the gene for cystic fibrosis, a genetic disease that affects approximately 30,000 people in the U.S. If the test reveals that both parents are CF carriers, there is a 25 percent chance that each of their children will have cystic fibrosis. If only one partner carries the gene, there is no danger that their children will have CF.

Inadequate oversight of genetic testing and failure to adhere to professional guidelines have resulted in misleading information being given to some patients. As a result, couples have undergone needless medical procedures including abortion. This experience with CF genetic testing reveals cracks in the system of oversight of genetic tests that must be repaired. Patients have already fallen through.

Federal agencies exercise very little oversight of genetic tests. In the absence of federal regulations, testing laboratories, physicians and patients rely on testing and reporting standards crafted by professional societies.(2) The current problems with cystic fibrosis genetic testing may be occurring with other genetic tests and, as genetic tests proliferate, these problems will only grow unless swift action is taken to strengthen oversight.

"Genetic testing should offer families the chance to receive information to guide their health care and reproductive decisions. When conducted properly, it does just that. Flaws in the system, however, can have dangerous, expensive and painful consequences," explained Dr. Kathy Hudson, director of the Johns Hopkins University Genetics and Public Policy Center.

The Genetics and Public Policy Center is undertaking a detailed assessment of the oversight of CF testing and will be developing a range of policy approaches to ensure a seamless system of offering, ordering and interpreting tests so that patients will get accurate and comprehensible information. As part of this assessment, the center is sponsoring a
symposium later this month in Washington, D.C., on cystic fibrosis carrier testing.

(1)Strom, C., et al. Cystic fibrosis screening using the College panel. Genet Med 4(4): 289-296 (2002). Redman, JB., et al. "Reporting the CFTR intron 8 5T allele in general population screening", Poster, ACMG Annual Meeting, San Diego, CA, March 13-16, 2003. Also at this meeting, an "alert" was issued stating "over 20 prenatal tests were performed for 5T alone and with terminations occurring."

(2) Grody, W., et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2): 149-154 (2001). In April 2001, ACOG and ACMG issued a publication for physicians,
Preconception and Prenatal Carrier Screening for Cystic Fibrosis. It articulated specific guidelines for patient and provider education, laboratory standards, interpretation of results and quality assurance.

Related Web site:

The Genetics and Public Policy Center, located in Washington, D.C., is part of the Phoebe R. Berman Bioethics Institute at The Johns Hopkins University.


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