The Protocol and Laboratory Support Core (PLSC) located in the Office of the Clinical Director, Medical Genetics Branch, provides NHGRI researchers in the Division of Intramural Research with technical assistance and support related to the development, implementation and clinical laboratory support of research protocols involving human subjects. The P&LS core is divided into two units: the Protocol Development and Management (PDM) Unit, under the administrative oversight of Lindsay A. Middelton, R.N., CGC; and the Translational Research and Laboratory Support (TRLS) Units under administrative oversight of Ann C.M. Smith, M.A., CGC, Research Assistant Professor, Georgetown University Medical Center. The PDM Unit provides assistance to NHGRI investigators, including subject ascertainment, and enrollment and coordination of sample submissions. The TRLS Unit coordinates and manages the receipt of patient samples for clinical, diagnostic, and/or research purposes according to clinical protocol requirements, and promotes the diagnostic development and clinical phase of testing of NHGRI-DIR derived diagnostic applications by liaison with contracted CLIA approved laboratories.

Research Activities

In addition to the technical and support responsibilities, the PLSC is involved in several clinically based research projects.

To better understand the value, impact and quality of genetic service provision within the changing U.S. health care delivery system, an outcomes-based project, "Consumer Expectations and Satisfaction with Genetic Services", was initiated in 1995. The goals of the research are to: 1) assess expectations about genetic services among genetics clients seen in either a prenatal or general genetics setting; 2) determine the extent to which the client's expectations are met; and 3) determine if there is an association between the levels of satisfaction and the extent to which consumer expectations are met; and 4) examine the concordance between the provider's perception of client satisfaction and client reported satisfaction levels.

A study is underway analyzing the preferences about storage and future use of DNA samples, among subjects enrolled through two NHGRI protocols during a two year period. A second project examines the preferences of research subjects providing blood samples. While the process of informed consent has focused on the nature of the study and potential risks and benefits to be derived from participation, discussions about potential use of samples for future research and the subject's preferences regarding this issue are often not addressed. Yet, concomitant with the increased advances arising from genetic research, is the growing public awareness that genetic information is sensitive, and misuse of the information a possibility. Recommendations from a 1994 NIH/CDC workshop on stored human tissue samples and informed consent made recommendations about past and future collection of human samples. These recommendations were incorporated into several NHGRI consent documents, thereby providing subjects with an opportunity to indicate their preferences about future research use of their DNA samples. These choices range from barring any future use of their DNA sample to total and free unrestricted use (with or without notification) in any future research.

Two Additional projects under development explore the family experience with genetic conditions. The first study will describe the inter- and intra-generational exchange of information pertaining to inherited diseases and it's affect on knowledge and psychosocial adjustment of family members. This qualitative and quantitative descriptive study explores parent-child exchange of information and the receptivity of parents to the involvement of genetic professionals in this process.

The second project study focuses on the natural history of Smith-Magenis syndrome (SMS) and its impact on the family across the lifespan. SMS, a probable contiguous gene syndrome due to del 17p11.2, was first described in the early 1980's by Ann C.M. Smith, MA and Ellen Magenis, MD. The phenotype of SMS is distinct and includes a characteristic pattern of physical features; speech delay with or without associated hearing loss; a hoarse, deep voice; signs of peripheral neuropathy; variable levels of mental retardation; and neurobehavioral problems, including sleep disturbance, maladaptive and self-injurious behaviors. The vast majority of SMS cases have been identified in the last 5 years as a result of improved molecular cytogenetic techniques and increased awareness of the syndrome. Behavioral problems, some distinctive in SMS, represent the major management problem and social dynamic for both parents, families and professionals working with this syndrome. The interdisciplinary protocol examines the medical, social, developmental and behavioral aspects of SMS, in order to: 1) delineate the clinical phenotype and natural history of SMS across the lifespan, with specific emphasis on oral-motor, otolaryngologic and related speech findings; 2) identify optimal intervention strategies, treatment and management options for persons with SMS; and 3) examine the SMS family experience and psychosocial aspects impacting the family (stress, coping, resilience) in hopes of providing improved support and counseling for persons with SMS and their families.