Outcome and life satisfaction of adults with myelomeningocele.

BACKGROUND: Myelomeningocele (MMC) commonly causes impairments in body structure and functions as well as cognitive disabilities that can have an adverse effect on adult life. Improved medical care has resulted in increased numbers of individuals with MMC surviving to adulthood, however little is known about the impact of MMC on the lives of adults age 25 years or older. OBJECTIVE: To gain a better understanding of outcomes in education, employment, relationships, reproduction and life satisfaction of adults with MMC. METHODS: A primarily quantitative multiple-choice questionnaire designed to capture outcomes in education, employment, relationships and reproduction, along with a previously validated life satisfaction checklist (LiSat-11), was completed by adults with MMC. Relationships between demographic variables, outcomes and life satisfaction were determined using cross tabulation analysis, logistic regression and linear regression. RESULTS: Ninety adults with MMC, age 25-85 years (median age 32), reported a diverse range of outcomes in education, employment, relationships and reproduction. The most consistent variable associated with difficulty attaining adult milestones was hydrocephalus, the presence of which reduced the likelihood of living independently (p ≤ 0.001), having a partner (p = 0.003) and reproducing (p ≤ 0.001), but did not contribute to reduced life satisfaction. CONCLUSIONS: Adults with MMC, especially those without hydrocephalus, can obtain gainful employment, live independently, form partner relationships and have children, and these achievements contribute to life satisfaction. While MMC does not affect overall reported life satisfaction for adults, attention should be paid to specific domains with less reported satisfaction.

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

Most children with chromosome 22q11.2 deletion syndrome (22q11DS) have an IQ in the range that may allow them to be capable of understanding a genetic diagnosis despite mild intellectual disabilities. However, there are no publications that relate to the disclosure of a 22q11DS diagnosis to the affected child, or the factors that influence parents' disclosure to the child. A pilot study was conducted including eight semi-structured interviews with caregivers of children with 22q11DS, 10 to 17 years of age, to investigate the factors that influence how parents inform their children of the diagnosis. Six of eight participants had disclosed the diagnosis to the child, and most of these parents felt they could have benefited from additional advice from professionals to increase their confidence and success, as well as the child's comprehension of the information. Those who had not informed the child were uncertain about the words to use, how to initiate the conversation, or were concerned about the child's level of understanding. Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support.

Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing.

The purpose of this study was to assess primary care physicians' awareness, experience, opinions and preparedness to answer patients' questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.

Educational needs of primary care physicians regarding direct-to-consumer genetic testing.

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient's questions and manage their care should be used when creating educational programs.

Boundary issues and multiple relationships in genetic counseling supervision: supervisor, non-supervisor, and student perspectives.

Boundary issues and multiple relationships potentially affect all supervision interactions. Boundary crossings are departures from the strictest professional role and may or may not benefit supervisees. Boundary violations are outside common practice and may place supervisees at significant risk. Multiple relationships occur when supervisors concurrently or consecutively hold two or more roles with supervisees. Studies in other fields indicate supervisors and supervisees may be uncertain about professional conduct regarding these issues. In this study, genetic counselor supervisors (n = 126), non-supervisors (n = 72), and genetic counseling students (n = 129) completed an anonymous survey investigating four major questions: 1) Are various boundary issues and multiple relationships perceived as differentially appropriate? 2) Do supervisor, non-supervisor, and student perceptions differ? 3) What challenging situations have respondents experienced? and 4) What management strategies did they use? There was general agreement among groups in their appropriateness ratings of 56 hypothetical supervisor behaviors, although supervisor ratings tended to reflect stricter boundaries regarding the appropriateness of interactions than student ratings. A majority rated unavoidable boundary crossings and supervisor multiple relationships involving an academic relationship as most appropriate, and romantic/sexual multiple relationships and/or boundary violations as least appropriate. Analysis of respondents' actual challenging situations revealed many involved boundary violations, placed students at risk of harm, and often resulted in student compliance.

Ethical issues in cancer genetics: I 1) whose information is it?

This article presents and discusses four clinical cases that exemplify the complexity of ethical dilemmas concerning the provider's obligation to disclose or withhold genetic information from patients. Case 1: What is the responsibility of the cancer genetics provider to ensure that a positive test results is shared with distant relatives? Case 2: To ensure that results go to at-risk relatives, do we have the right to ignore the wishes of the designated next-of-kin? Case 3: Do we have the right to reveal a familial BRCA1 mutation to a patient's relative, who is at 50% risk? Case 4: Do we have an obligation to reveal that a patient is not a blood relative and therefore, not at risk to have inherited a familial mutation? These cases form the basis for discussing the provider's dual obligations to keeping patient confidentiality and informing patients and families about risk (i.e. duty to warn). We also provide a summary of consensus points and additional discussion questions for each case.

Supervision of psychosocial skills in genetic counseling.

Little has been written about how genetic counseling supervisors can help students develop psychosocial skills in their clinical rotations. The authors describe several approaches supervisors can use, ranging from preventive measures (e.g., normalizing anxiety), to skill-enhancing interventions (e.g., modeling and thinking aloud), to more direct approaches (e.g., immediacy, confrontation) that may be necessary for students who are reluctant, or even resistant, to using psychosocial skills with their clients.