Discovering genetic links to rare bone marrow failure disorders

The Challenge 

Westat is supporting research the National Cancer Institute’s (NCI’s) Clinical Genetics Branch is conducting on the course of inherited bone marrow failure syndromes (IMBFS).

Investigators are working to identify genes associated with the syndromes to better interpret variations in disease presentation to help explain why some individuals present early in life with severe disease while others are affected in adulthood, as well as understand the relationship between the syndromes and an increased risk of developing cancer.

Findings related to cancer development in this rare disease population may be further applied to the occurrence of cancer in the general population.

Our Solutions 

  • To support the NCI investigators, Westat staff is engaged in the following activities

    • Recruiting participants, determining eligibility, and collecting individual and family medical history and risk factor information
    • Obtaining medical records and pathology materials from outside institutions
    • Coordinating clinical assessments of some study participants at the National Institutes of Health (NIH) Clinical Center
    • Providing genetic counseling both at the NIH Clinical Center and via telephone
    • Collecting biological specimens from participants and distributing them to nearly 30 collaborating laboratories
    • Managing the study questionnaire data, as well as data collected at the clinical center and from outside collaborators
    • Processing the data and building analytic data sets

The Results 

  • The study has led to the discovery of several genetic mutations associated with these syndromes. In addition, this research has paved the way for new applications of diagnostic tools.
  • Publications of various research findings have raised awareness in the medical community contributing to an increase in disease identification and often more positive patient outcomes.

Our Client 

National Cancer Institute (NCI)