The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations

Milbank Q. 1992;70(4):629-59.

Abstract

Routine prenatal testing for cystic fibrosis (CF) should be halted until the detection rate reaches 95 percent. Pilot studies are needed in order to evaluate the feasibility of meeting education, consent, and counseling requirements in order to facilitate informed reproductive decisions by clients and to minimize the potential for confusion, stigmatization, and discrimination. Primary care physicians may not be trained adequately to provide appropriate information, and prenatal visits may not be an ideal setting. The public's interest in carrier testing, prenatal testing, and pregnancy termination is uncertain because CF patients have an increasing median survival, variable disability, and normal intelligence. Even with a goal that limits testing for the purpose of informed reproductive decision making, the considerable cost of screening per case prevented must be considered before it becomes public policy. Until these issues have been clarified, the duty of primary care physicians is to inform patients of the test's availability and to refer interested patients to qualified genetic counselors rather than to provide the test themselves.

MeSH terms

  • Attitude to Health
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / prevention & control*
  • Decision Making
  • Disclosure
  • Family Practice / methods
  • Family Practice / standards
  • Feasibility Studies
  • Genetic Carrier Screening*
  • Genetic Testing / standards*
  • Health Care Costs
  • Health Policy*
  • Health Services Research
  • Humans
  • Informed Consent
  • Paternalism
  • Patient Education as Topic / standards
  • Personal Autonomy
  • Physician's Role*
  • Pilot Projects
  • Pregnant Women
  • Referral and Consultation
  • Risk Assessment*
  • Uncertainty