Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English-speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. The parent's interpretation of the child's result agreed with the clinician's interpretation in 79% of cases, with more frequent discordance when the clinician's interpretation was uncertain. The majority (79%) reported no regret with the decision to have CES. Most (65%) reported complete satisfaction with the genetic counseling experience, and satisfaction was positively associated with years of genetic counselor (GC) experience. The psychological impact of CES was greatest for parents of children with positive results and for parents with anxiety or depression. The results of this study are important for helping clinicians to prepare families for the possible results and variable psychological impact of CES. The frequency of parental misinterpretation of test results indicates the need for additional clarity in the communication of results. Finally, while the majority of patients were satisfied with their genetic counseling, satisfaction was lower for new GCs, suggesting a need for targeted GC training for genomic testing.

It's not just what you say: relationships of HIV dislosure and risk reduction among MSM in the post-HAART era.

In the post-HAART era, critical questions arise as to what factors affect disclosure decisions and how these decisions are associated with factors such as high-risk behaviors and partner variables. We interviewed 1,828 HIV-positive men who have sex with men (MSM), of whom 46% disclosed to all partners. Among men with casual partners, 41.8% disclosed to all of these partners and 21.5% to none. Disclosure was associated with relationship type, perceived partner HIV status and sexual behaviors. Overall, 36.5% of respondents had unprotected anal sex (UAS) with partners of negative/unknown HIV status. Of those with only casual partners, 80.4% had >1 act of UAS and 58% of these did not disclose to all partners. This 58% were more likely to self-identify as gay (versus bisexual), be aware of their status for <5 years and have more partners. Being on HAART, viral load and number of symptoms were not associated with disclosure. This study - the largest conducted to date of disclosure among MSM and one of the few conducted post-HAART - indicates that almost 1/5th reported UAS with casual partners without disclosure, highlighting a public health challenge. Disclosure needs to be addressed in the context of relationship type, partner status and broader risk-reduction strategies.

Intricacies and inter-relationships between HIV disclosure and HAART: a qualitative study.

This study aimed to understand whether and how highly active antiretroviral treatment (HAART) affects views and patterns of disclosure and how disclosure interacts with treatment decisions. One hundred and fifty-two HIV-positive adults (52 MSM, 56 women and 44 IDU men) from four US cities participated in two to three-hour, semi-structured interviews in 1998-99. Results indicate that HAART interacts with and shapes HIV disclosure issues in several ways. Medications may 'out' people living with HIV. Thus, in different settings (e.g. work, prisons, drug rehabs and public situations), some try to hide medications or modify dosing schedules, which can contribute to non-adherence, and affect sexual behaviours. Disclosure of HIV and/or HAART may also result in antagonism from others who hold negative attitudes and beliefs about HAART, potentially impeding adherence. Observable side effects of medications can also 'out' individuals. Conversely, medications may improve appearance, delaying or impeding disclosure. Some wait until they are on HAART and look 'well' before disclosing; some who look healthy as a result of medication deny being HIV-positive. Alternatively, HIV disclosure can lead to support that facilitates initiation of, and adherence to, treatment. HIV disclosure and adherence can shape one another in critical ways. Yet these interactions have been under-studied and need to be further examined. Interventions and studies concerning each of these domains have generally been separate, but need to be integrated, and the importance of relationships between these two areas needs to be recognized.

MDMA ("Ecstasy") abuse and high-risk sexual behaviors among 169 gay and bisexual men.

OBJECTIVE: The authors explored the association between abuse of 3, 4-methylenedioxymethamphetamine (MDMA, or "Ecstasy") and high-risk sexual behaviors among gay and bisexual men. METHOD: An anonymous questionnaire was completed by 169 gay and bisexual men at three New York City dance clubs. The questionnaire covered demographic indices, use of MDMA and other drugs, and history of high-risk sexual behaviors. RESULTS: About one-third of the respondents reported MDMA use at least monthly. MDMA use was strongly and significantly associated with a history of recent unprotected anal intercourse. This association remained equally strong even after controlling for age, ethnicity, and all other forms of drug use, including alcohol. CONCLUSIONS: MDMA abuse, and its strong association with high-risk sexual behaviors, appears to represent important unexplored public health problems among some gay or bisexual men.

Treatment orientation and associated characteristics of North American academic psychiatrists.

We present data showing the degree to which a "biological-psychotherapeutic" division persists in American psychiatry, and how psychiatrists' treatment orientation is associated with personal and professional characteristics. Almost two thirds of academic psychiatrists who responded to our survey (N = 435) could be classified as either biological (27%) or psychotherapeutic (37%) in orientation, according to the proportion of their caseload to which they provided psychotherapy (< or = 25% vs. > 75%). There appears to have been an increase over the last 35 years in the proportion of psychiatrists who can be classified as biologically oriented and a decrease in the proportion who can be classified as psychotherapeutically oriented, as well as the emergence of a large class of intermediate or "eclectic" practitioners (36%). Several personal and professional attributes were distributed differentially according to treatment orientation. Psychotherapeutically oriented respondents more frequently reported personal histories of psychiatric disorders than did biologically oriented respondents (64% vs. 39%) as well as greater satisfaction with clinical work (81% vs. 53% "very satisfied"). Differences were also found in age, gender, history of personal psychotherapy, family history of psychiatric disorder, history of marijuana use, degrees of involvement in research, teaching and clinical care of patients, and overall work satisfaction, as well as other characteristics.