A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.

PURPOSE: Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients. METHODS: Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Counselors in November of 2017. RESULTS: One hundred twenty genetic counselors completed the quantitative survey, distributed in Fall of 2017. While the majority of respondents knew of the Gaucher-related Parkinson's link (n = 78; 65%), just over one-third reported discussing it in preconception/prenatal settings (n = 30; 38.5%). Respondents reported discussing these links more consistently when disclosing positive results or when the patient/family approached the topic. Respondents cited the lack of professional guidelines as one of the main reasons for not discussing the link. CONCLUSION: These results highlight an inconsistency in PPGCs' discussions of the Parkinson's risk in Gaucher disease carriers, and the need to develop guidelines regarding these issues to help standardize the care and education of patients.

Maximizing resources with mini-grants: enhancing preparedness capabilities and capacity in public health organizations.

INTRODUCTION: The Illinois Preparedness and Response Learning Center engages in efforts to develop and maintain a competent, sustainable, and prepared public health workforce in Illinois. Training, education, and technical assistance activities are driven by assessments conducted to identify preparedness gaps, needs, and priorities of public health organizations and the communities they serve. BACKGROUND: Many public health organizations face limited resources to engage in activities they identify as essential to building preparedness and response capabilities and capacity. In response to this challenge, the Illinois Preparedness and Response Learning Center adapted a mini-grant program to support short-term, targeted preparedness-related activities for which there was a need but no discretionary resources available. METHODS: A mini-grant program was implemented on the basis of a request for proposals, with projects funded for a 6-month period. An evaluation was conducted at 6 and 12 months to assess the impact of the local project on the capabilities and capacity of the organizations that participated. RESULTS: Thirteen projects were funded in local health departments and other organizations in a variety of communities across Illinois. Evaluation results indicate that these short-term projects contributed to the organization's preparedness efforts and local partnerships 6 and 12 months after funding ended. DISCUSSION: Even relatively small amounts of funding can assist public health agencies and their community partners in improving capabilities and building organizational and community capacity. LESSONS LEARNED: (1) The mini-grant program model can help develop and cultivate preparedness partnership between academia and practice to achieve positive outcomes despite limited funding. (2) Funding self-assessed needs of organizations through a mini-grant process may have value for larger programs without the staff resources or time to provide customized preparedness services to a large target market/service area. (3) There appear to be benefits to channeling small amounts of funding to address targeted needs and gaps identified by organizations.