THE DIFFUSION OF NEW GENETIC TESTS FOR PREDICTING DISEASE

被引:25
作者
HOLTZMAN, NA
机构
[1] Johns Hopkins Medical Institutions, Baltimore
关键词
GENETIC DISORDER; FAMILY-CENTERED TESTING; GENETIC SCREENING; PHENYLKETONURIA; GENETIC TEST KIT; NONGENETIC PHYSICIAN SPECIALIST; POPULATION-ORIENTED SCREENING; POTENTIAL TESTEE; GENETICS SPECIALIST; ASYMPTOMATIC RELATIVE; ALLELE; DNA TECHNOLOGY; CARRIER SCREENING;
D O I
10.1096/fasebj.6.10.1634043
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
This paper examines the pathways by which new genetic tests will become available to the public. In view of the scarcity of genetic specialists, the pathway is likely to involve primary care physicians. Other pathways entail state-mandated testing, community-based programs, or testing by laboratories without much involvement of primary care physicians. When testing does become available the "destination" will be either family-centered testing or population-oriented screening. The deterrent to screening will not be the inability to detect disease-causing mutations but the costs and attitudes of providers and the public. When tests are provided primarily to provide information about risks to future children, some people will oppose screening on religious or moral grounds. When there are no inexpensive treatments, some will fear that insurance companies and employers will use tests to deny them health care coverage. Some may not want to know their risks for disorders about which little can be done. For common, multifactorial disorders, genetic tests will have low predictive value. Because of these problems, the decision to be tested, regardless of the destination, requires that "testees" be fully informed and consent to testing. When acceptance rates are low, screening is less likely to be cost-effective; family-centered testing becomes the default destination.
引用
收藏
页码:2806 / 2812
页数:7
相关论文
共 41 条
  • [1] BILLINGS PR, 1992, AM J HUM GENET, V50, P476
  • [2] BLUMENTHAL D, INT J TECHNOL ASSESS, V5, P579
  • [3] THE LEGAL CONCEPT OF WRONGFUL LIFE
    BOTKIN, JR
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1988, 259 (10): : 1541 - 1545
  • [4] GENETIC SCREENING PROGRAMS AND PUBLIC-POLICY
    BOWMAN, JE
    [J]. PHYLON, 1977, 38 (02) : 117 - 142
  • [5] CHILDS B, 1976, AM J HUM GENET, V28, P537
  • [6] CLEMENS PR, 1991, AM J HUM GENET, V49, P951
  • [7] CUTTING GR, 1992, MOL DIAGNOSTICS RES
  • [8] THE EVOLUTION OF CLINICAL POLICIES
    DIXON, AS
    [J]. MEDICAL CARE, 1990, 28 (03) : 201 - 220
  • [9] A SURVEY TO EVALUATE PARENTAL CONSENT AS PUBLIC-POLICY FOR NEONATAL SCREENING
    FADEN, R
    CHWALOW, AJ
    HOLTZMAN, NA
    HORN, SD
    [J]. AMERICAN JOURNAL OF PUBLIC HEALTH, 1982, 72 (12) : 1347 - 1352
  • [10] FOST N, 1973, PEDIATRICS, V51, P742