DEVELOPMENTAL GENOME ANATOMY PROJECT (DGAP)

Patients with apparently balanced chromosomal rearrangements and multiple congenital anomalies are being sought for participation in a gene discovery research project (http://dgap.harvard.edu). Goals of DGAP include rapid mapping of chromosomal breakpoints, positional cloning of genes interrupted or dysregulated at the breakpoints, and validation of genes identified in specific anomalies through creation of animal models. Further description of DGAP, sample submission and patient consent forms, and contact information are all available on the Web site, or by contacting Azra Ligon (aligon@rics.bwh.harvard.edu; 617-732-7984), Heather Ferguson (hferguson1@partners.org; 617-525-5769), or Amy Bosco (abosco@partners.org; 617-732-8810). Your assistance in this project is deeply appreciated!

POSITION AVAILABLE

Director of Molecular Genetics: The Genetics Center in Orange, southern California (Disneyland area), has an immediate opening for a Director of Molecular Genetics Laboratory. The Molecular Genetics Laboratory currently offers a wide range of diagnostic assays. Candidates should have a doctorate degree (PhD, MD, or MD/PhD), be Board-Certified or eligible for a California Genetics Laboratory Directorship, and have significant DNA-based testing experience. Responsibilities will include interpretation and signing out of test results, supervision of molecular laboratory, participation in laboratory activities, and development of new tests and/or technology. The Genetics Center is a comprehensive center with molecular genetic and cytogenetic laboratories, plus genetic counseling and extensive genetic clinics. Genetics Center has been in operation for 16 years and has been in our new building with facilities custom-built for us for over a year now. We are a CME provider with an active continuing education program, and opportunities are available to participate in educational activities. For more information, visit our Web site at http://www.geneticscenter.com. We offer full benefits, a very pleasant environment, and competitive salaries. A curriculum vitae with cover letter detailing experience and future interests should be faxed to (714) 288-8525 or mailed to Genetics Center, 211 South Main Street, Suite E, Orange, CA 92868, Attn.: Robert Meyer, Vice President, phone: (714) 288-8520, Email: nzadeh@aol.com.

ACMG STATEMENT DEVELOPMENT INSTRUCTIONS

The Practice & Guidelines Committee facilitates the development of College statements, which come from the membership. A guideline is initiated by the completion of a form called “Intent to Develop an ACMG Statement,” which is then reviewed and voted on by the Board. The instructions and form are available in this issue of the journal and the online journal http://www.geneticsinmedicine.org.

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Instructions for Completing Intent Form

The ACMG encourages active participation of its membership in the development of Statements. To initiate this process, review these instructions, complete the Intent and send to Susan Hayflick, MD, Molecular and Medical Genetics, Oregon Health Sciences University, Mail code L103a, 3181 SW Sam Jackson Park Rd., Portland, OR 97201; (503)494-6866 phone; (503)494-4411 fax; hayflick@ohsu.edu.

  • 1. The Intent form is available at the ACMG website, through ACMG offices and in Genetics in Medicine.

  • 2. The person completing the Intent will, as a rule, lead the Statement Working Group. The Intent will be reviewed by the ACMG Practice, Policy & Guidelines Committee within two weeks of receipt. Any needed revisions will be made. The Intent will be presented to the ACMG Board of Directors for review and action (approve, deny or defer). Once an Intent is approved by the Board, follow Instructions for Developing an ACMG Statement (currently under development) available at the ACMG website.

  • 3. An Intent may be submitted only by Fellows of the ACMG.

  • 4. All sections of the Intent form must be completed. Please direct all questions to Susan Hayflick.

  • 5. Types of Statements (defined by Clinical Practice Guidelines, Institute of Medicine, Marilyn Field & Kathleen Lohr, editors, National Academy Press, 1990):

    • Policy Statement: statement of recommended practice based on a consensus of opinions

    • Rapid Action Statement: as above but on a topic that demands rapid action

    • Subject Review: systematic review of a subject that may be controversial, with a balance of viewpoints represented and key issues highlighted

    • Practice Guideline: systematically developed statement based on evidence to assist practitioner and patient decisions about appropriate health care for specific circumstances.

  • 6. Indicate anticipated dates for completion of a first draft and a final draft. A recommended timeline for a first draft from Board approval of the Intent would be:

    • 6 months if Policy Statement

    • 10 weeks if Rapid Action Statement

    • 12 months if Subject Review or Practice Guideline

  • 7. Indicate Statement Working Group members and all stakeholder organizations. Please send copies of cv's for all Working Group members to Susan Hayflick by email.