Early Intervention services in the era of genomic medicine: setting a research agenda.

Newborn genomic sequencing (NBSeq) has the potential to substantially improve early detection of rare genetic conditions, allowing for pre-symptomatic treatment to optimize outcomes. Expanding conceptions of the clinical utility of NBSeq include earlier access to behavioral early intervention to support the acquisition of core motor, cognitive, communication, and adaptive skills during critical windows in early development. However, important questions remain about equitable access to early intervention programs for the growing number of infants identified with a genetic condition via NBSeq.

Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.

Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism spectrum disorder, is associated with multiple neurobehavioral abnormalities including sleep difficulties. Nonetheless, frequency, severity, and consequences of sleep problems are still unclear. The Fragile X Online Registry with Accessible Research Database (FORWARD-version-3), including Clinician Report and Parent Report forms, was analyzed for frequency, severity, relationship with behavioral problems, and impact of sleep difficulties in a mainly pediatric cohort.

Is there a duty to reinterpret genetic data? The ethical dimensions.

The evolving evidence base for the interpretation of variants identified in genetic and genomic testing has presented the genetics community with the challenge of variant reinterpretation. In particular, it is unclear whether an ethical duty of periodic reinterpretation should exist, who should bear that duty, and what its dimensions should be. Based on an analysis of the ethical arguments for and against a duty to reinterpret, we conclude that a duty should be recognized.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

Objective: Growing use of clinical exome sequencing (CES) has led to an increased burden of genomic education. Self-guided educational tools can minimize the educational burden for genetic counselors (GCs). The effectiveness of these tools must be evaluated.

Does sex education before college protect students from sexual assault in college?

Purpose: College-bound young people experience sexual assault, both before and after they enter college. This study examines historical risk factors (experiences and exposures that occurred prior to college) for penetrative sexual assault (PSA) victimization since entering college.

Methods: A cross-sectional study, including an online population-based quantitiative survey with undergraduate students was conducted in spring 2016.

Patient preferences for personalized (N-of-1) trials: a conjoint analysis.

Objective: Despite their promise for increasing treatment precision, Personalized Trials (i.e., N-of-1 trials) have not been widely adopted.

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.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

The impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separated into two arms: 107 who had ES and were offered the choice to learn secondary results (ES group) and 85 who had not yet had ES (No ES group). Questionnaires were administered at baseline and 1 and 12 months, following results disclosure (ES group) or enrollment (No ES group).

Criminal Charges for Child Harm from Substance Use in Pregnancy.

Despite the opposition of medical and public health professionals, several state legislatures are considering laws that permit child abuse charges for substance use during pregnancy. We reviewed legal decisions regarding women charged with a crime against a fetus or child as a result of substance use during pregnancy. We identified 24 judicial opinions published between 1977 and 2015 in cases involving 29 women prosecuted in 19 states.

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research.

Secondary or incidental results can be identified in genomic research that increasingly uses whole exome/genome sequencing. Understanding research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen research participants enrolled in genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data.

Project Gel a Randomized Rectal Microbicide Safety and Acceptability Study in Young Men and Transgender Women.

Objectives: The purpose of Project Gel was to determine the safety and acceptability of rectal microbicides in young men who have sex with men (MSM) and transgender women (TGW) at risk of HIV infection.

Methods: MSM and TGW aged 18-30 years were enrolled at three sites; Pittsburgh, PA; Boston, MA; and San Juan, PR. Stage 1A was a cross-sectional assessment of sexual health and behavior in MSM and TGW.

Acceptability of Three Novel HIV Prevention Methods Among Young Male and Transgender Female Sex Workers in Puerto Rico.

Sex workers need HIV-prevention methods they can control and incorporate easily in their work. We studied the acceptability of three methods: HIV self-test use with clients, oral pre-exposure prophylaxis (PrEP), and rectal microbicide gel. Four male and eight transgender female (TGF) sex workers in Puerto Rico completed a baseline survey with a quantitative measure of likelihood of use.

Experience and Opinions of Forensic Psychiatrists Regarding PTSD in Criminal Cases.

By the end of 2014, 1.5 million veterans of the Second Iraq and Afghan wars were to have returned home, up to 35 percent with PTSD. The potential use of PTSD as the basis for legal claims in criminal defense is therefore a pressing problem.

Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.

Whole exome/ genome sequencing (WES/WGS) is now commonly used in research and is increasingly used in clinical care to identify the genetic basis of rare and unknown diseases. The management of incidental findings (IFs) generated through these analyses is debated within the research community. To examine how views regarding genomic research IFs are associated with researcher characteristics and experiences, we surveyed genetic professionals and assessed the effect of professional background and experience on their opinions.

PrEP in substance abuse treatment: a qualitative study of treatment provider perspectives.

Objectives: To examine substance abuse treatment providers' views on engaging clients in Pre-exposure Prophylaxis (PrEP) care and research trials.

Methods: Thirty-six medical and counseling service providers in six New York City outpatient substance abuse treatment programs participated in semi-structured qualitative interviews. Thematic content analysis was conducted by three coders, independently.

Informed consent for return of incidental findings in genomic research.

Purpose: Researchers face the dilemma of how to obtain consent for return of incidental findings from genomic research. We surveyed and interviewed investigators and study participants, with the goal of providing suggestions for how to shape the consent process.

Methods: We performed an online survey of 254 US genetic researchers identified through the NIH RePORTER database, abstracts from the 2011 American Society of Human Genetics meeting, and qualitative semi-structured interviews with 28 genomic researchers and 20 research participants.

Researchers' views on return of incidental genomic research results: qualitative and quantitative findings.

Purpose: Comprehensive genomic analysis including exome and genome sequencing is increasingly being utilized in research studies, leading to the generation of incidental genetic findings. It is unclear how researchers plan to deal with incidental genetic findings.

Methods: We conducted a survey of the practices and attitudes of 234 members of the US genetic research community and performed qualitative semistructured interviews with 28 genomic researchers to understand their views and experiences with incidental genetic research findings.

Verbal deficits and disruptive behavior disorders among children of opiate-dependent parents.

In order to explore the association between verbal deficits and disruptive behavior disorders among children of addicted parents, 283 6-17-year-old children and their opiate-dependent parents completed diagnostic interviews and standardized measures of vocabulary. Unexpectedly, racial differences in the scores confounded the exploration of the relationship between cognitive scores and disruptive behavior disorders. An interaction between disruptive behavior disorder and race is explored; among Caucasian youths, low verbal scores are associated with disruptive behavior disorders, but this association was not found among African- and Hispanic-American youths.