ETHICAL & POLICY ISSUES IN CYSTIC FIBROSIS SCREENING
ETHICAL & POLICY ISSUES IN CYSTIC FIBROSIS SCREENING
批准号:
3333669
负责人:
NEIL A HOLTZMAN
金额:
$25.68万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
1991
资助国家:
美国
项目状态:
已结题
起止时间:
1991-09-30 至 1994-08-31
关键词:
autosomal recessive trait coping cystic fibrosis dyadic interaction ethics family planning genetic counseling genetic disorder genetic disorder diagnosis health behavior human subject information seeking behavior interpersonal relations marriage /marital status morals polymerase chain reaction psychological tests questionnaires self concept socioeconomics training
中文摘要
随着人类基因组的绘制和疾病相关基因的识别,
用于筛查人群致病或易感性的测试-
授予突变的机会将变得越来越多。对于某些人来说
这些疾病没有有效的治疗方法。载体筛查
将确定有感染风险的个人和夫妇
后代。然后他们可以为受影响的孩子的出生做准备,或者
选择避免怀孕或出生的选项。
大多数接受携带者筛查的人很少或根本没有
个人对所涉疾病的熟悉程度。除非他们收到
关于疾病的足够信息(残疾程度和范围
严重程度)、测试的局限性(假阳性和假
负面影响),以及积极结果的影响(风险
受影响的后代、产前诊断、堕胎)他们对
是否接受筛查可能与他们的孩子不一致-
培养目标、容忍不确定性或道德戒律。其中
那些同意接受筛查的人,结果可能会产生心理上的影响
压力和对额外测试的需求,即使在有机会
受影响的儿童相对较小。
一种检测大多数但不是所有携带者的检测方法的可用性
导致囊性纤维化(CF)的突变为
确定人们在面对实际情况时的反应
是否接受筛查的决定。Cf运营商筛查将是
提供给健康维护组织的年轻成年成员。我们
将决定跟随一个小组进行筛查的接受率
教育计划,并检查人口统计的影响,
社会经济、认知和行为特征对决策的影响
接受筛选。筛查对那些被确认为
携带者,以及其中一方被确定为携带者的夫妇
也将进行研究。一年中筛查的接受率
消息灵通的人群和被识别为携带者的影响
将为与遗传相关的公共政策提供更好的指导
放映。
英文摘要
As the human genome is mapped and diseased-related genes identified,
tests for screening populations for disease-causing or susceptibility-
conferring mutations will become increasingly available. For some of
the diseases, no effective cure will be available. Carrier screening
will identify individuals and couples at risk of having affected
offspring. They then can prepare for the birth of an affected child or
choose options to avoid its conception or birth.
Most people to whom carrier screening is offered will have little or no
personal familiarity with the disease in question. Unless they receive
sufficient information about the disease (extent of disability and range
of severity), the limitations of the test (false positives and false
negatives), and the implications of positive results (risk of having
affected offspring, prenatal diagnosis, abortion) their decision on
whether or not to be screened may not be consonant with their child-
rearing goals, tolerance for uncertainty, or moral precepts. Among
those who agree to be screened, the results may generate psychological
stress and demand for additional testing even when the chance of having
an affected child is relatively small.
The availability of a test that detects most, but not all, carriers of
the mutations that cause cystic fibrosis (CF) affords an opportunity to
determine how people respond when they are confronted with the actual
decision of whether to be screened. CF carrier screening will be
offered to young adult members of a health maintenance organization. We
will determine the rate of acceptance of screening following a group
education program and examine the influence of demographic,
socioeconomic, cognitive, and behavioral characteristics on the decision
to be screened. The impact of screening on those identified as
carriers, and on couples in whom one partner is identified as a carrier,
will also be studied. The rates of acceptance of screening among a
well-informed population and the effect of being identified as a carrier
will provide better guidance to public policy related to genetic
screening.
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Involving consumers in the development of an educational program for cystic fibrosis carrier screening.
让消费者参与囊性纤维化携带者筛查教育计划的制定。
DOI:
--
发表时间:
1994
期刊:
American journal of human genetics
影响因子:
9.8
作者:
[Myers,MF, Bernhardt,BA, Tambor,ES, Holtzman,NA]
通讯作者:
Holtzman,NA
DOI:
10.1038/nature11992
发表时间:
2013-04-25
期刊:
Nature
影响因子:
64.8
作者:
[]
通讯作者:
Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization.
为 HMO 人群提供囊性纤维化携带者筛查:与利用相关的因素。
DOI:
--
发表时间:
1994
期刊:
American journal of human genetics
影响因子:
9.8
作者:
[Tambor,ES, Bernhardt,BA, Chase,GA, Faden,RR, Geller,G, Hofman,KJ, Holtzman,NA]
通讯作者:
Holtzman,NA
Educating patients about cystic fibrosis carrier screening in a primary care setting.
在初级保健机构中对患者进行有关囊性纤维化携带者筛查的教育。
DOI:
10.1001/archfami.5.6.336
发表时间:
1996
期刊:
Archives of family medicine
影响因子:
--
作者:
[Bernhardt,BA, Chase,GA, Faden,RR, Geller,G, Hofman,KJ, Tambor,ES, Holtzman,NA]
通讯作者:
Holtzman,NA
ETHICAL & POLICY ISSUES IN CYSTIC FIBROSIS SCREENING
-
批准号:3333667
-
项目类别:
-
资助金额:$31.44万
-
财政年份:1991
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & POLICY ISSUES IN CYSTIC FIBROSIS SCREENING
-
批准号:3333668
-
项目类别:
-
资助金额:$38.12万
-
财政年份:1991
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:2208367
-
项目类别:
-
资助金额:$32.22万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:2208369
-
项目类别:
-
资助金额:$27.13万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:3333051
-
项目类别:
-
资助金额:$33.5万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:3333050
-
项目类别:
-
资助金额:$35.19万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:2208368
-
项目类别:
-
资助金额:$32.95万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:3333053
-
项目类别:
-
资助金额:$20.3万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:3333052
-
项目类别:
-
资助金额:$31.41万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:2415445
-
项目类别:
-
资助金额:$27.35万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
ETHICAL & LEGAL ISSUES IN THE DIFFUSION OF GENETIC TESTS
-
批准号:2721494
-
项目类别:
-
资助金额:$4.94万
-
财政年份:1990
-
负责人:NEIL A HOLTZMAN
-
依托单位:
PSYCHOMETRIC DEFICITS AND IRON DEFICIENCY IN HUMAN PREGNANT ADOLESCENTS
-
批准号:4699169
-
项目类别:
-
资助金额:$0.0万
-
财政年份:--
-
负责人:NEIL A HOLTZMAN
-
依托单位:
海外基金