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.

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.

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.

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.

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.

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.