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Biomedical subjects

E W Clayton

Publications and source records attributed to E W Clayton.

At least 19 recordsLinked to original sources
PubMed1998

Hereditary hemochromatosis: gene discovery and its implications for population-based screening.

OBJECTIVE: To evaluate the role of genetic testing in screening for hereditary hemochromatosis to help guide clinicians, policymakers, and researchers. PARTICIPANTS: An expert panel was convened on March 3, 1997, by the Centers for Disease Control and Prevention (CDC) and the National Human Genome Research Institute (NHGRI), with expertise in epidemiology, genetics, hepatology, iron overload disorders, molecular biology, public health, and the ethical, legal, and social implications surrounding the discovery and use of genetic information. EVIDENCE: The group reviewed evidence regarding the clinical presentation, natural history, and genetics of hemochromatosis, including current data on the candidate gene for hemochromatosis (HFE) and on the ethical and health policy implications of genetic testing for this disorder. CONSENSUS PROCESS: Consensus was achieved by group discussion confirmed by a voice vote. A draft of the consensus statement was prepared by a writing committee and subsequently reviewed and revised by all members of the expert group over a 1-year period. CONCLUSIONS: Genetic testing is not recommended at this time in population-based screening for hereditary hemochromatosis, due to uncertainties about prevalence and penetrance of HFE mutations and the optimal care of asymptomatic people carrying HFE mutations. In addition, use of a genetic screening test raises concerns regarding possible stigmatization and discrimination. Tests for HFE mutations may play a role in confirming the diagnosis of hereditary hemochromatosis in persons with elevated serum iron measures, but even this use is limited by uncertainty about genotype-phenotype correlations. To address these questions, the expert group accorded high priority to population-based research to define the prevalence of HFE mutations, age and sex-related penetrance of different HFE genotypes, interactions between HFE genotypes and environmental modifiers, and psychosocial outcomes of genetic screening for hemochromatosis.

Female↗
PubMed1998

Satisfaction with obstetric care: relation to neonatal intensive care.

OBJECTIVE: To examine the relationship between admitting children to a neonatal intensive care unit (NICU) and mothers' satisfaction with obstetric care. METHODS: Mothers of live-born infants who are now normal were interviewed about their perceptions of the interpersonal, organizational, and technical care they and their babies received during pregnancy, delivery, and the neonatal period, and their and their infants' health. Comparisons between the responses of mothers whose babies were admitted to the normal nursery (n = 595) and those whose babies were sent to an NICU (n = 72) were made by chi2 analysis (1 df) and Wilcoxon rank sum tests. RESULTS: Mothers whose babies were admitted to an NICU were more likely to complain that their obstetricians did not explain things in terms they could understand (P < .05); did not give them the right amount of information about what to expect during pregnancy (P < .05); hid something from them before delivery (P < .001); did not explain the reasons for tests performed during delivery (P < .05); misled them about their child's prognosis (P < .001); failed to treat properly a problem during delivery (P < .05); and did not know the latest medical developments (P < .05). CONCLUSION: Even when children do well, admission of newborns to an NICU is associated with greater maternal dissatisfaction with obstetric care.

Adult↗
PubMed1997

Genetic testing in children.

In this article, the author focuses on the allocation of decision-making authority between parents and physicians. She argues that parents should have substantial room to decide whether genetic testing is good for their child and that they may appropriately consider interests in addition to those of their child in making such choices. A physician, however, may refuse to act pursuant to parental views about testing, when in the physician's view, the parents' choices would pose a risk of significant harm to the child. The balance of control between parents and physicians is illustrated by discussion of a series of case vignettes. Refusal to perform requested testing is most often warranted for testing for carrier status and for genetic predisposition to late onset disease. The author concludes her analysis by discussing why it is appropriate to give increasing deference to the views of the child as the child grows older.

Adolescent↗
PubMed1996

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.

We used signs and letters to offer free cystic fibrosis (CF) carrier screening to nonpregnant adults in stable relationships who visited numerous clinical and nonclinical sites in Nashville. A total of 179 individuals (<<1% of those eligible) elected to be tested. To understand this observation, we used questionnaires to assess individuals' attitudes about genetic testing in general and about CF carrier screening in particular (n=873). Participants expressed conflicting views about carrier screening. More than 90% of people thought that genetic testing should at least be available. Most respondents said that the views of their partners and physicians were important in their decision making, and most believed that these others favored genetic testing. Yet, more than two-thirds indicated that such factors as insurability, being "at risk," what they would need to learn, abortion, and religious beliefs were important in their decision making, opinions that mitigated against genetic testing. In particular, one-third feared that carriers would lose their health insurance, one-quarter said that they would have been more interested had they been able to provide DNA by buccal swab rather than by finger stick, and less than one-sixth believed that genetic testing was meddling in God's plan. In the face of both the low level of use of free CF carrier screening by nonpregnant couples when it was not offered in person by health-care professionals and the wide variety of concerns demonstrated, we believe that clinicians should not routinely offer carrier screening to nonpregnant individuals who do not have a family history of CF.

Adult↗
PubMed1995

Informed consent for genetic research on stored tissue samples.

OBJECTIVE: To develop recommendations for obtaining adequate informed consent in the future when gathering tissue samples that may be used for genetic studies and defining the circumstances under which it is necessary to obtain further consent if tissue samples already in hand are to be used for such research. PARTICIPANTS: Scientists, ethicists, lawyers, and consumers selected by the National Center for Human Genome Research and the Centers for Disease Control and Prevention to represent a wide array of opinions. EVIDENCE: Statutes, regulations, and cases and articles on law and ethics. CONSENSUS PROCESS: Initial workshop, followed by circulation of several drafts of this document with opportunities for comment by workshop participants and others as well as smaller meetings involving participants with widely differing views. CONCLUSION: Genetic research using stored tissue samples poses an array of benefits and risks to individuals, researchers, and society. As a result, the workshop participants conclude that (1) informed consent is required for all genetic research using linkable samples unless conditions for limitation or waiver are met; (2) informed consent is not required for genetic research using anonymous samples but may be considered if identifiers are to be removed from currently linkable samples; (3) institutional review boards could usefully review all protocols that propose to use samples for genetic research; and (4) further work regarding these issues is warranted.

Anonymous Testing↗
PubMed1995

Removing the shadow of the law from the debate about genetic testing of children.

When physicians view efforts to obtain genetic testing for children as unwise or contrary to the children's interests, they face difficult problems both of ethics and of communicating with the parents. Contrary to the suggestions of some, the law has little to say about how physicians resolve these dilemmas. Parents do not have a constitutionally protected right to demand that unwilling physicians perform these tests. In addition, there is little risk of liability for damages unless the child suffers physical harm as a result of the physician's refusal to do the test. The debate about genetic testing of children needs to take place with a clear understanding of the law's limited impact.

Child↗
PubMed1995

Teaching about cystic fibrosis carrier screening by using written and video information.

We performed two studies using only written and video materials to educate people about cystic fibrosis (CF) and carrier screening. Participants were randomized to receive written or video materials. All received a brief questionnaire. Subjects in group I (n = 238) were (1) individuals in steady relationships and their partners, (2) > or = 18 years old, and (3) not pregnant. Those who accepted free screening and were not demonstrable carriers were sent a letter explaining their results and another questionnaire. Subjects in group II (n = 108) were parents seeking well child care in a university clinic. The main outcome measures were ability to answer questions correctly about (1) health status of CF carriers and people with CF, (2) the possibility of false-negative results, and (3) for those who had screening, the implications of their own results. Written and video materials were equally effective in conveying information. Prior to screening, subjects answered an average of 86% of questions correctly. Subjects with less formal education answered fewer questions correctly; 60% of those with less than a high school education had adequate knowledge of the health consequences of having CF or being a carrier, compared with > or = 94% of college graduates. Performance improved after screening. Where neither partner was a demonstrable carrier, 88% knew their own and their partner's test results, and 90% indicated that their risk of having a child with CF was not zero. Written and video educational materials can be used without face-to-face counseling to inform most people about carrier screening and their test results. These materials may be less effective for those with lower educational backgrounds.

Adult↗
PubMed1994

Parents' responses to vaccine information pamphlets.

OBJECTIVE: To assess parents' knowledge and opinions about immunizations and immunization practices before and after introduction of vaccine information pamphlets. RESEARCH DESIGN: Telephone questionnaire administered to parents whose children received immunizations in the preceding week. SETTING: Six private pediatric practices in Nashville area and resident continuity clinic at Vanderbilt University Medical Center. PARTICIPANTS: Parents whose children were scheduled to receive immunizations were asked to participate. Interviews were completed with 177 parents whose children received immunizations before and 156 parents after pamphlets were introduced. These two groups of parents had similar demographic characteristics. RESULTS: Parents who received vaccine information pamphlets learned more about vaccines (2.38 facts/parent after vs 1.18/parent before vaccine information pamphlets, z = -6.28, P < .0001) and were more eager to obtain immunizations for their children (76% vs 38%, chi 2 = 47.24, P < .001). Receipt of pamphlets did not make parents significantly more likely to report side effects from vaccines (63% after vs 55% before, NS) but tended to make them less likely to turn to non health care providers for information (58% after vs 69% before, chi 2 = 3.73, P = .06). Parents who received pamphlets, however, said more often that they received too much information (20% vs 4%, chi 2 = 14.9, P < .001). CONCLUSIONS: Vaccine information pamphlets enhanced parents' knowledge and acceptance of immunizations. There is room for further improvement.

Child↗
PubMed1993

Whose DNA is it anyway? Relationships between families and researchers.

DNA obtained for research may, at a later time, become crucial for carrier and prenatal diagnosis. Continuing rapid advances in human genetics make this scenario more and more common. The following case illustrates some of the problems that may occur when DNA donors and researchers do not establish a verbal or written agreement at the time the DNA is obtained. The legal and ethical ramifications of this situation are examined through case discussion and review of the literature. We propose that even in the absence of a verbal or written agreement, researchers continue to have a responsibility to share any significant information obtained from linkage studies with donor families if such information becomes available. If the DNA specimens become critical for prenatal or carrier testing at a later time, we feel that the family has a right to request and receive aliquots of such specimens. The research unit should have the right to charge a storage fee for DNA banking. Clear agreement between donor and researcher at the time of specimen collection may avoid legal and ethical problems in the future.

Contracts↗