Including ELSI research questions in newborn screening pilot studies.

BACKGROUND: The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies. APPROACH: Members of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS. RESULTS: Through these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system. CONCLUSION: Integrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.

Foundation of the Newborn Screening Translational Research Network and its tools for research.

In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.

Reporting genomic secondary findings: ACMG members weigh in.

PURPOSE: The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing. METHODS: A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics. RESULTS: The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with "best practice" items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient preferences should be considered, including ability to opt out, and that informed consent was feasible and critical. Characteristics significantly associated with factor scores included country of residence, sequencing experience, and years in practice. CONCLUSION: The American College of Medical Genetics and Genomics should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional. Research on implementation of secondary findings reporting is needed.

Emergency preparedness for genetics centers, laboratories, and patients: the Southeast Region Genetics Collaborative strategic plan.

Emergencies occur unpredictably and interrupt routine genetic care. The events after hurricanes Katrina and Rita have led to the recognition that a coherent plan is necessary to ensure continuity of operations for genetic centers and laboratories, including newborn screening. No geographic region is protected from the effects of a variety of potential emergencies. Regional and national efforts have begun to address the need for such preparedness, but a plan for ensuring continuity of operations by creating an emergency preparedness plan must be developed for each genetic center and laboratory, with attention to the interests of patients. This article describes the first steps in development of an emergency preparedness plan for individual centers.

Physician practice behavior and practice guidelines: using unannounced standardized patients to gather data.

BACKGROUND: Measuring actual practice behaviors of physicians, particularly as they relate to established clinical guidelines, is challenging. Standardized patients provide one method of collecting such data. OBJECTIVE: To demonstrate the use of unannounced standardized patients in gathering data that may address adherence to guidelines in an office setting. DESIGN: Unannounced standardized patients (SPs) simulating an initial type 2 diabetic visit presented to community offices of 32 internists as "real" patients to record physicians' evaluation and management. PARTICIPANTS: Unannounced SPs presented to the office of 32 internists as "real" patients. MEASUREMENTS: Unannounced SPs, simulating type 2 diabetics, completed a standardized assessment sheet, based on ADA guidelines to record physicians' evaluation and management following an initial visit. Patient charts were also reviewed to determine if evaluation adhered to the guidelines. RESULTS: Unannounced SPs recorded 56 visits with 32 community internists; all SPs remained undetected. All physicians asked SPs about medications. At least 50% of physicians asked about home blood sugar monitoring, last eye exam, smoking, edema, and told patients to stop smoking. Less than 50% of physicians asked about parasthesias, performed fundoscopy, examined feet, referred the patient to a diabetic educator or ophthalmologist, or gave patients suggestions regarding glucose monitoring or exercise. HbA1c was ordered in 78%, metabolic profiles in 86%, and urinalysis/microalbumin in 41% of patients. CONCLUSIONS: Unannounced standardized patients can successfully collect important data regarding physician practices in community settings. This method may be helpful in assessing physician adherence to established clinical practice guidelines.

Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita.

Provision of health care to patients during and after events like those which occurred in association with hurricanes Katrina and Rita poses particular difficulties for rare disease patients, including those with genetic/metabolic diseases. In this summary, we recount the obstacles encountered in attempting to maintain and restore essential medical care to these patients, and offer proposals which may mitigate future such events.

An innovative partnership in service.

OBJECTIVE: Stimulated by the need for better alignment of educational content and goals with evolving societal needs, practice patterns, and scientific developments, many medical schools are implementing new and creative educational experiences for students. Tulane University School of Medicine and Apple Computers have established an innovative partnership in which Apple laptop computers support and enhance students' service learning projects. The partnership also provides a unique opportunity to meet the Medical School Objectives Project (MSOP) objectives in Medical Informatics and Population Health, as outlined in Report II.(1) DESCRIPTION: Apple Computers has a commitment to the New Orleans community as part of its corporate strategic plan to support educational programs at all levels; Tulane has a longstanding commitment to and experience with student-led service learning as part of the Foundations in Medicine Course.(2) Senior administrative personnel from Tulane and Apple discussed these common interests, resulting in a partnership to enhance the potential impact on the community served. Apple agreed to donate 20 G3 Powerbooks and a complete set of the Apple Learning series of software to support new and ongoing service-learning projects. A committee of Tulane faculty and students, information technology staff, and an Apple representative developed the project. To maximize students' access to the laptops while managing the administration's liability, the laptops were identically configured with standardized software packages (database development and maintenance, Web access, word processing, presentation development and execution, automated backup, and individual project access to protected server space). To maximize the use of the laptops, students from the service-learning organizations can check out the laptops on a just-in-time basis, because the projects have different needs over time. Student-service leaders are currently defining and developing the exact uses for the laptops. We anticipate that this project will enhance the administrative management of service-learning programs (e.g., schedules, directions to sites), the presentation of educational programs (e.g., teaching in schools), the creation of new media to support programs (e.g., our restaurant choking program has a partnership with the American Heart Association to create a video and training manual to be used nationwide), and data tracking (e.g., sites and clients served, outcomes achieved). Students' use of the laptops should support the achievement of several of the MSOP Report II Medical Informatics objectives. To assess that, all first-year medical students are completing a pre- and post-project survey based on those objectives. DISCUSSION: The availability of laptops and software should significantly enhance the service-learning programs. The students participating should gain important skills in the use of computer technology related to their roles as lifelong learners, educators and communicators, researchers, and managers.(1) We plan to report the results of the pre- and post-project surveys once they have been completed. Students' feedback on the project has been very positive, and we hope it can serve as a model for other medical school, corporate, and community partnerships.