PubMed Health⌕ Search

Biomedical subjects

B S LeRoy

Publications and source records attributed to B S LeRoy.

5 recordsLinked to original sources

Ethical and professional challenges posed by patients with genetic concerns: a report of focus group discussions with genetic counselors, physicians, and nurses.

Ninety-seven physicians, nurses, and genetic counselors from four regions within the United States participated in focus groups to identify the types of ethical and professional challenges that arise when their patients have genetic concerns. Responses were taped and transcribed and then analyzed using the Hill et al. (1997, Counsel Psychol 25:517-522) Consensual Qualitative Research method of analysis. Sixteen major ethical and professional domains and 63 subcategories were identified. Major domains are informed consent; withholding information; facing uncertainty; resource allocation; value conflicts, directiveness/nondirectiveness; determining the primary patient; professional identity issues; emotional responses; diversity issues; confidentiality; attaining/maintaining proficiency; professional misconduct; discrimination; colleague error; and documentation. Implications for practitioners who deal with genetic issues and recommendations for additional research are given.

Attitude of Health Personnel↗

A survey of genetic counselors' use of informed consent documents for prenatal genetic counseling sessions.

Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.

Attitude of Health Personnel↗

Nondirectiveness in genetic counseling: a survey of practitioners.

The literature defines nondirectiveness as a genetic counseling strategy that supports autonomous decision-making by clients [Fine, 1993]. This study surveyed 781 full members of the National Society of Genetic Counselors (NSGC) between April and June, 1993, to assess how they define nondirectiveness, its importance to their practice, and how and why they are ever directive. Almost 96% of 383 respondents reported viewing nondirectiveness as very important, but 72% stated they are sometimes directive. The most common reasons for directiveness include: difficulties ensuring that verbal and nonverbal cues remain nondirective; to recommend testing; client is unable to understand; a better choice is clear; to recommend medical care or counseling; or when a client has difficulty making a decision. Nonsignificant Chi-square analyses indicated that counselor responses were independent of counselor demographics. While these findings suggest that nondirectiveness is a goal in genetic counseling, it is not the only goal. Recognition of the delicate balance between directing the process and defining the outcome of genetic counseling can enhance clinicians' ability to discern the circumstances under which directiveness is and is not appropriate.

Comprehension↗

Identification of carriers of Duchenne muscular dystrophy: value of molecular analysis.

Currently, molecular methods are the most accurate diagnostic tools for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD). This report illustrates the value of molecular diagnosis as opposed to previous diagnostic methods, the need for frequent re-evaluations as new methodologies develop, and the necessity for in-depth genetic counseling. In Family 1, the proposita was predicted to be a carrier by an indirect assay (abnormal in vitro muscle ribosomal protein synthesis). DNA analysis using restriction fragment length polymorphisms (RFLPs) indicated that she was not a carrier. She gave birth to a predicted non-affected male, who inherited the gene in question. In Family 2 the proposita, an obligate carrier, was initially evaluated by RFLP analysis. Two pregnancies were monitored by first trimester chorionic villous sampling. Re-evaluation indicated that all affected individuals, including one of the embryos, carried a deletion of the dystrophin gene. The identification of an RFLP within the region containing the deletion allowed unambiguous determination of the carrier status of all individuals.

Female↗