This page and related links last reviewed on August 8,2012

Reports to: Council on Scientific Affairs

Charge: The CAP/ACMG Biochemical and Molecular Genetics Committee functions as the primary source of biochemical genetics, molecular genetics, maternal screening and (in conjunction with a cross-committee work group) pharmacogenetics expertise and perspective for heritable conditions within the CAP; develops, maintains, evaluates and enhances proficiency testing programs in biochemical genetics, molecular genetics, maternal screening and pharmacogenetics; advises and supports other CAP committees and Councils when heritable conditions impact their primary area of focus; develops interfaces with outside agencies and organizations committed to defining and maintaining excellence in biochemical genetics, molecular genetics, maternal screening and pharmacogenetics; and contributes to the continuing education of the members of the CAP through Surveys, critiques, publications and participation in CAP education programs.

Time Commitment

Number of face-to-face meetings: 3
Length of each meeting: 2 at 1.5 days; one at 1.0 days
Typical meeting days of the week: Saturday/Sunday; one Friday meeting

Location of meetings: usually less than 50 miles from an airport. One meeting is always in Chicago or Washington D.C.

Number of conference calls: Approximately 3, but varies. Infrequent due to regular e-mail use.

Hours of committee work required outside of meetings / year:
Member: 30+ hours
Vice Chair: 40+ hours
Chair: 75+ hours

Additional travel or time commitments:

Attendance at CSA Leadership Meetings (twice yearly, as chair). Additional meetings to represent committee when needed.

Activities of Committee

• Extensive review of Surveys specifications, Surveys data
• Critique development and participant correspondence
• Regular review and discussion of LAP Checklist(s)
• Preparation of Structured Evaluation Process (STEP) proposals and other requests for direction from CSA
• Respond to requests for information and review of CAP position statements
• Coordination with Molecular Pathology and Other Resource Committees as necessary
• This committee includes several areas of expertise reflected in different working groups: biochemical, molecular genetics, pharmacogenetics and maternal serum screening

Expertise or Experience Required

• Current or recent active practice in biochemical, maternal serum screening and/or molecular genetics testing
• Interest in promoting biochemical and molecular genetics and pathology
• Interest in supporting Committee educational initiatives in the areas of biochemical and molecular genetics

Benefits to membership on this committee

• Opportunity to serve, develop state of the art lab improvement programs and improve standardization
• Opportunity to network with colleagues
• Opportunity to publish committee projects reviewing survey data
• Opportunity to participate in committee developed educational activities, other publications, web exercises, presentations at CAP and other national or local meetings
• Potential opportunities to represent CAP at workshops or conferences dealing with biochemical or molecular genetic testing

Representation on committees beyond the CAP:

• Committee co-sponsored with the American College of Medical Genetics
• Inbound liaison from the AACC
• Outbound liaison to the American College of Medical Genetics

Related Links

• Genetics Topic Center
• Committee Roster
• Surveys/EXCEL Proficiency Testing

Additional Resources

• Donate Tissue

• Sample Exchange Registry