The Value of a Genetic Counselor: Improving Identification of Cancer Genetic Counseling Patients with Chart Review

Advances in genetics are changing cancer care and requiring institutions to maximize the unique skills of genetics professionals. The identification of genetic syndromes is vital for prevention and management of families with high cancer risks. Despite this, high risk individuals who qualify are often not referred. Genetic counselors could review oncology charts to improve identification. A genetics assessment tool developed by NCI Community Cancer Centers Program was used to perform self-assessment of the genetics program. A weekly report of all new oncology patients was provided to a genetic counselor for chart review. In 2010, 58 % of all eligible patients (n?=?152) were offered a genetics evaluation. In 2011 this improved to 70 % (n?=?167), which was a statistically significant difference, X ²(1)?=?5.13, p?=?0.02. By cancer site, ovarian cancer referrals also showed statistically significant improvement, X ²(1)?=?6.36, p?=?0.01. Breast and colon referrals were improved but not significant. Over 10 months, 129 patients were identified through the chart review program. Three were confirmed to have a genetic mutation for a hereditary cancer syndrome. An average week included review of 73 charts for 10 medical oncologists, 4 radiation oncologists, and 4 pediatric oncologists which generated 60–80 min of work for the genetic counselor. This program improved patient identification and quality, and allowed physicians to become more aware of opportunities for genetic counseling and more patients to receive genetic counseling and testing.     

Perceived Risk Following Melanoma Genetic Testing: A 2-Year Prospective Study Distinguishing Subjective Estimates from Recall

A major goal of predictive genetic testing is to alert people to their risk before illness onset; however, little is known about how risk perceptions change following genetic testing and whether information is recalled accurately over time. In the United States, a CDKN2A/p16 mutation confers 76 % lifetime risk of melanoma. Following genetic counseling and test reporting, subjective risk estimates and recall of counselor-provided risk estimates were assessed 5 times over the next 2 years among 60 adult members of 2 extended CDKN2A/p16 kindreds. No sustained changes from baseline in risk perceptions were reported. Unaffected carriers (n?=?15) consistently reported significantly lower subjective risk estimates (46 %) than they were actually given (76 %, p?<?0.001) or recalled having been given (60 %, p?<?0.001). Noncarriers’ (n?=?27) risk estimates decreased following results disclosure, but rebounded, with both subjective and recalled estimates subsequently exceeding what they were told by the counselor (both ps?<?0.001). Affected carriers’ (n?=?18) risk estimates for developing a new melanoma corresponded well to counselor-provided information (p?=?0.362). For all 3 patient groups, results were consistent across multiple risk measures and remained similar when demographic, phenotypic, and baseline behavioral contributors to melanoma risk were statistically controlled. These findings are consistent with other studies of risk perception, but additional studies of more diverse populations are needed to understand the reasons behind both the persistence of initial risk estimates and their divergence from information provided by the counselor during genetic counseling. Additionally, determining whether holding subjective risk perceptions that differ from counselor-provided information ultimately affects adherence to management recommendations will help guide the presentation of risk information in genetic counseling practice.     

Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients

Mosaic chromosomal abnormalities are relatively common. However, mosaicism may be missed due to multiple factors including failure to recognize clinical indications and order appropriate testing, technical limitations of diagnostic assays, or sampling tissue (s) in which mosaicism is either not present, or present at very low levels. Blood leukocytes have long been the “gold standard” sample for cytogenetic analysis; however, the culturing process for routine chromosome analysis can complicate detection of mosaicism since the normal cell line may have a growth advantage in culture, or may not be present in the cells that produce metaphases (the lymphocytes). Buccal cells are becoming increasingly utilized for clinical analyses and are proving to have many advantages. Buccal swabs allow for simple and noninvasive DNA collection. When coupled with a chromosomal microarray that contains single nucleotide polymorphic probes, analysis of buccal cells can maximize a clinician’s opportunity to detect cytogenetic mosaicism. We present three cases of improved diagnosis of mosaic aberrations using buccal specimens for chromosomal microarray analysis. In each case, the aberration was either undetectable in blood or present at such a low level it likely could have gone undetected. These cases highlight the limitations of certain laboratory methodologies for identifying mosaicism. We also present practice implications for genetic counselors, including clinic workflow changes and counseling approaches based on increasing use of buccal samples.     

Attitudes About Internet Support Groups Among Adolescents and Young Adults with Neurofibromatosis Type 1 and their Parents

Youth with neurofibromatosis type 1 (NF1) have multiple, complex symptoms associated with physical, social-emotional, and cognitive difficulties. In addition, caring for a child with NF1 can be extremely challenging for parents. Since research with other chronic illness populations suggests that social support, including internet support groups (ISGs), can be beneficial, this survey study aimed to determine the attitudes and preferences of adolescents and young adults with NF1 and parents of a child with NF1 regarding ISGs. Thirty patients and 30 caregivers completed a 24-item survey about ISGs. Many patients and parents are not aware of any ISGs for NF1, but are interested in using one in the future for a variety of reasons, including to get answers to their questions about NF1, to find out about research studies, and to discuss problems and concerns about NF1. Specific concerns of interest include physical, social-emotional, and cognitive aspects of NF1. ISGs have potential as a social support intervention within the NF1 community. ISGs for the NF1 population should include patients with NF1 (or parents of children with NF1) as well as a health professional, and both chat rooms and discussion boards likely would be well-received.     

Does d-Cycloserine Augmentation of CBT Improve Therapeutic Homework Compliance for Pediatric Obsessive–Compulsive Disorder?

Clinical studies in adults and children with obsessive–compulsive disorder (OCD) have shown that d-cycloserine (DCS) can improve treatment response by enhancing fear extinction learning during exposure-based psychotherapy. Some have hypothesized that improved treatment response is a function of increased compliance and engagement in therapeutic homework tasks, a core component of behavioral treatment. The present study examined the relationship between DCS augmented cognitive-behavioral therapy (CBT) and homework compliance in a double-blind, placebo controlled trial with 30 youth with OCD. All children received 10 CBT sessions, the last seven of which included exposure and response prevention paired with DCS or placebo dosed 1 h before the session started. Results suggested that DCS augmented CBT did not predict improved homework compliance over the course of treatment, relative to the placebo augmented CBT group. However, when groups were collapsed, homework compliance was directly associated with treatment outcome. These findings suggest that while DCS may not increase homework compliance over time, more generally, homework compliance is an integral part of pediatric OCD treatment outcome.     

Internalizing Symptoms in Female Adolescents: Associations with Emotional Awareness and Emotion Regulation

The transition into adolescence involves a number of changes that for many adolescents result in increased negative affect and internalizing symptoms, especially for females. In the current study we examined the direct and indirect effects of emotional awareness on internalizing symptoms by exploring the extent to which certain emotion regulation strategies influence this relationship. Participants were 123 female adolescents aged 13–16 years (M = 14.51 years) who completed measures of emotional awareness, emotion regulation (emotional reappraisal and expressive suppression), and symptoms of depression and social anxiety. Two multiple indirect effect models were conducted including both reappraisal and suppression (one for each of the dependent variables, depression and social anxiety) via the bootstrapping method. Results found that reappraisal accounted for the effect of emotional awareness on depressive symptoms but suppression accounted for the effect of emotional awareness on social anxiety symptoms. Results suggest that emotion regulation strategies play an important role in determining depressive and social anxiety symptoms and are associated with an adolescent’s level of emotional awareness.     

You’re Better Respected When You Carry Yourself as a Man: Black Men’s Personal Accounts of the Down Low “lifestyle”

Although the notion of a down low life style, called various things at various times, has a long history in the black community, the past few years have been marked by an exponential increase in attention of this phenomenon in both the mainstream press and scholarly work. However, much of this work has focused on exploring whether men on the down low present a unique threat for HIV infection to black women. Currently, there exist very few scholarly works exploring the lives of black men who have sex with men and women that specifically address their own experiences living on the down low or how these men personally define what it means to be on the down low. In this article, we explore why black men who have sex with men and black men who have sex with men and women, including those who self-identify as gay, bisexual or as being on the down low, come to use the down low label and what it means to them to be on the down low.     

Virginity for Sale: A Foucauldian Moment in the History of Sexuality

Natalie Dylan attempted to auction her virginity through the website of a legal Nevada brothel. Public discourses surrounding Dylan’s auction have characterized it as everything from a smart business transaction to the sale of her self-respect. Using a theoretical frame from Foucault, methods of textual construction, and rhetorical methods of analysis guided by cluster criticism, our paper explores how online discourses surrounding the auction enact problematics concerning the concepts of virginity and the interrelationships among women, sex, money, and power in American society. While Dylan’s discourse attempts to create space for sexual women and commodified sexuality as empowering for women, responses to her enterprise indicate there is little room for a woman’s unapologetic offer of her commodified virginity.     

Cognitive control moderates early childhood temperament in predicting social behavior in 7‐year‐old children: an ERP study

Behavioral inhibition (BI) is a temperament associated with heightened vigilance and fear of novelty in early childhood, and social reticence and increased risk for anxiety problems later in development. However, not all behaviorally inhibited children develop signs of anxiety. One mechanism that might contribute to the variability in developmental trajectories is the recruitment of cognitive‐control resources. The current study measured N2 activation, an ERP (event‐related potential) associated with cognitive control, and modeled source‐space activation (LORETA; Low Resolution Brain Electromagnetic Tomography) at 7 years of age while children performed a go/no‐go task. Activation was estimated for the entire cortex and then exported for four regions of interest: ventromedial prefrontal cortex (VMPFC), ventrolateral prefrontal cortex (VLPFC), dorsal anterior cingulate cortex (dorsal ACC), and dorsal lateral prefrontal cortex (DLPFC). BI was measured in early childhood (ages 2 and 3 years). Anxiety problems and social reticence were measured at 7 years of age to ascertain stability of temperamental style. Results revealed that BI was associated with increased performance accuracy, longer reaction times, greater (more negative) N2 activation, and higher estimated dorsal ACC and DLPFC activation. Furthermore, early BI was only associated with social reticence at age 7 at higher (more negative) levels of N2 activation or higher estimated dorsal ACC or DLPFC activation. Results are discussed in the context of overcontrolled behavior contributing to social reticence and signs of anxiety in middle childhood.