Complete and sustained response of adult medulloblastoma to first-line sonic hedgehog inhibition with vismodegib.

Medulloblastoma is an aggressive primitive neuroectodermal tumor of the cerebellum that is rare in adults. Medulloblastomas fall into 4 prognostically significant molecular subgroups that are best defined by experimental gene expression profiles: the WNT pathway, sonic hedgehog (SHH) pathway, and subgroups 3 and 4 (non-SHH/WNT). Medulloblastoma of adults belong primarily to the SHH category. Vismodegib, an SHH-pathway inhibitor FDA-approved in 2012 for treatment of basal cell carcinoma, has been used successfully in the setting of chemorefractory medulloblastoma, but not as a first-line therapy. In this report, we describe a sustained response of an unresectable multifocal form of adult medulloblastoma to vismodegib. Molecular analysis in this case revealed mutations in TP53 and a cytogenetic abnormality, i17q, that is prevalent and most often associated with subgroup 4 rather than the SHH-activated form of medulloblastoma. Our findings indicate that vismodegib may also block alternate, non-canonical forms of downstream SHH pathway activation. These findings provide strong impetus for further investigation of vismodegib in clinical trials in the first-line setting for pediatric and adult forms of medulloblastoma.

"What would you do if you were me?" Effects of counselor self-disclosure versus non-disclosure in a hypothetical genetic counseling session.

Two prior studies suggest genetic counselors self-disclose primarily because patients ask them to do so (Peters et al., 2004; Thomas et al., 2006). However, scant research has investigated effects of counselor disclosure on genetic counseling processes and outcomes. In this study, 151 students (98 undergraduates, 53 graduates) completed one of three surveys describing a hypothetical genetic counseling session in which a patient at risk for FAP was considering whether to pursue testing or surveillance procedures. Dialogue was identical in all surveys, except for a final response to the question: "What would you do if you were me?" The counselor either revealed what she would do (Personal Disclosure), what other patients have done (Professional Disclosure), or deflected the question (No Disclosure). Imagining themselves as the patient, participants wrote a response to the counselor and indicated their perceptions of her. Participants rated the non-disclosing counselor significantly lower in social attractiveness than either disclosing counselor, and less satisfying than the professional disclosing counselor. Analysis of written responses yielded four themes: Made Decision, Sought Information, Expressed Thoughts/Feelings, and No Decision. Practice implications and research recommendations are provided.

Newborn blood spot screening and genetic services: a survey of Minnesota primary care physicians.

PURPOSE: To (1) obtain guidance on the preferred content and format of quick reference newborn blood spot screening information from the Minnesota Department of Health; (2) determine primary care physicians' perceptions of the benefits of genetic services; and (3) determine primary care physicians' satisfaction with genetic counseling services. METHODS: A written survey was mailed to family physicians and pediatricians in Minnesota (n = 300). RESULTS: Eighty physicians responded (28% response rate). Whereas 70% of respondents felt previous information received from the newborn screening program was adequate, 83% were interested in quick reference information. The majority of physicians preferred this information as a laminated sheet (63%). Physician procedure for an abnormal screen, newborn screening program protocol for an abnormal screen, and disease treatment and follow-up information were recommended for inclusion on quick reference. Over half of physicians agreed with the following benefits of genetic services: provide testing options (88%); evaluate family members (88%); reduce parental anxiety (87%); provide resources (83%); provide diagnostic information (76%); determine medical needs (67%); and determine emotional needs (51%). Ninety-nine percent of physicians were satisfied with genetic counseling services. CONCLUSIONS: Physicians indicated that reference material for primary care physicians should include a quick reference card with specific categories of information. Newborn screening programs should attempt to increase physician awareness of genetic services, including the subsequent medical and psychosocial benefits for their patients.

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.