The National Birth Defects Prevention Network (NBDPN) is pleased to offer a webinar session on *Genetic Testing and Screening: Implications for Birth Defects Programs*

All individuals who are members of the National Birth Defects Prevention Network, employees of birth defects program, birth defects researchers, individuals who collect data from medical records or who code birth defects data are encouraged to register.

The presentation aims to help describe the testing for chromosomal abnormalities being used in a clinical setting to diagnose the cause(s) of birth defects, to understand the nomenclature used to report normal or abnormal test results, and to differentiate the relevant test results to be abstracted from a medical record for a birth defects surveillance program.

*PRESENTER :* Stuart Shapira, MD, PhD
Division of Birth Defects and Developmental Disabilities
National Center on Birth Defects and Developmental Disabilities, CDC

*DATE: *Thursday, June 25, 2009 at 3:00-4:15PM (EST) / 12:00-1:15PM (PST)

All presentations during the meeting will be broadcast live via Net Conferencing. Additionally, there will be a limited question/answer period that participants will be able to join. Handouts will be made available prior to as well as during the sessions.

*TO REGISTER, go to*: www.nbdpn.org/current/resources/WebinarGeneticTestingScreening.html

Registration is FREE but the number of webinar connections is LIMITED. To maximize the number of participants, it would be optimal for multiple participants to view the webinar using one connection. Registration is first come first serve, so remember to register early!

For those who will be* sharing a connection*, each individual participant is asked to individually register. Please identify one contact person for your group to receive the connection information and for technical purposes. (There’s a place on the registration form to include this information.)

Continuing education for this activity is pending. Please see final announcement for specific details.

*QUESTIONS:* Contact Miland Palmer at mpalmer@utah.gov or Cara Mai

HRSA recently released an RFA as part of the implementation of the Prenatally and Postnatally Diagnosed Conditions Awareness Act (PPDCAA). This cooperative agreement is for one award of $820,000 per year for three years.

The purpose of RFA is to:

1. Increase patient referrals to providers of key support services for women who have received a positive test diagnosis for Down syndrome, Spina Bifida, Dwarfism and other prenatally or postnatally diagnosed conditions;
2. Strengthen existing networks of support through outreach programs;
3. Improve available data by incorporating up-to-date, evidence-based information into existing state programs for birth defects and prenatally or postnatally diagnosed conditions;
4. Ensure that patients receive information about the accuracy of the diagnostic tests for the conditions;
5. Establish or increased access to a resource hotline.

Applicants must have capability and capacity to coordinate activities among the relevant stakeholders and initiate activities at the state, regional, and national level. I see this as essentially a national resource center.

For more information, go to: https://grants.hrsa.gov/webExternal/SFO.asp?ID=7A9325F9-7227-4BF3-9662-90B60C3150FA

The Centers for Disease Control Office of Public Health Genomics is in the process of developing a survey to test health messages that will be part of some “translation products” they are developing. These messages will be used to inform health care providers about the new genetic testing recommendations by the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) workgroup.

The Office of Public Health Genomics is looking for health care providers who can participate in a two-hour phone interview. The type of providers that they would like to interview include:

1. Genetic counselors
2. General practitioners
3. Oncologists
4. Nurse practitioners
5. Physician Assistants

Participants do not need to have knowledge or expertise in genetics or genomics, and do not need to know anything about the EGAPP recommendations. Participants will receive a small token of thanks.

• To read the EGAPP recommendation, visit the EGAPP website at: http://www.egappreviews.org/workingrp/recommendations.htm
• To participate in the interviews, or if you have questions about the project, contact:

  Jeanette St. Pierre, MPH, MA, team leader
  Health communication officer
  Office of Public Health Genomics
  Centers for Disease Control and Prevention
  1825 Century Blvd, Suite 1000
  Atlanta, Georgia 30345
  Phone: 404/498-0088
  FAX: 404/498-0140
  email: zcr5@cdc.gov
  www.cdc.gov/genomics

The National Human Genome Research Institute (NHGRI) has started Phase 2 of its long range planning process. This planning process is a means to help the NHGRI plan their research investments to further the contribution of genomics to improvements in human health and other areas of society. This planning process invites comments and opinions from the research, medical and public sectors and is expected to take 12 to 18 months; culminating in the end with a large meeting to review the final proposal.

Phase 1 has been completed and all comments, questions and suggestions were compiled into a draft of 4 white papers. These white papers address the topics that the NGHRI and community members have identified as being important.

Phase 2, which is now open until June 30, 2009, invites your input to be submitted on how best to address these topics. Once all comments have been received through this white-paper process, the input gathered will be analyzed by NHGRI and, if appropriate, used to generate approaches (such as a revised white paper or a workshop) to obtain additional input about each topic over the course of the remainder of 2009 and 2010.

The goal of the NHGRI, at this stage, is to gather as many ideas as possible, so please comment on anything and everything. To stimulate discussion, all comments will be anonymously posted online for others to view and respond to. Please feel free to share this announcement with any interested colleagues. For additional information on any of the white paper drafts or to make comment regarding the planning process, please go to www.genome.gov/about/planning

The NIH is hosting a State-of-the-Science Conference from August 24-26 to assess the available scientific evidence related to the following questions:

• What are the key elements of a family history in a primary care setting for the purposes of risk assessment for common diseases?
• What is the accuracy of the family history, and under what conditions does the accuracy vary?
• What is the direct evidence that getting a family history will improve health outcomes for the patient and/or family?
• What is the direct evidence that getting a family history will result in adverse outcomes for the patient and/or family?
• What are the factors that encourage or discourage obtaining and using a family history?
• What are future research directions for assessing the value of family history for common diseases in the primary care setting?

For more information, or to register for the conference, please go to: http://consensus.nih.gov/2009/2009FamilyHistorySOS031main.htm

The Department of Health and Human Services (HHS) has released a fact sheet and guidance about the Genetic Information Non-Discrimination Act (GINA 2008) for researchers and health care professionals.

To view the fact sheet, go to: http://www.genome.gov/Pages/PolicyEthics/GeneticDiscrimination/GINAInfoDoc.pdf

To view the guidance, go to: http://www.hhs.gov/ohrp/humansubjects/guidance/gina.pdf

The Genetic Alliance will hold its annual conference from July 17-19 in Washington, DC. The conference, “Discovering Openness in Health Systems,” will bring together advocates, health professionals, policymakers, industry professionals, and community leaders to engage in open discussion on a range of topics in genetics and advocacy. Genetic Alliance will offer a limited number of scholarships to reduce participation costs. The deadline for scholarship applications is May 11.

Visit the Genetic Alliance website to register or to learn more about the meeting: http://www.geneticalliance.org/conference09

The Health Resources and Services Administration (HRSA) is requesting nominations to fill two (2) vacancies on the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). The Secretary of Health and Human Services is soliciting nominations for individuals with expertise either in ethics or infectious diseases. This is the committee that recommends conditions to be added to the NBS panel and recommends priorities for the genetics collaboratives.

All nominations may be submitted to Michele A. Lloyd-Puryear, M.D., PhD, Designated Federal Official and Executive Secretary, Advisory Committee on Heritable Disorders in Newborns and Children, at: Maternal and Child Health Bureau, Health Resources and Services Administration, Room 18A-19, Parklawn Building, 5600 Fishers Lane, Rockville, Maryland 20857. Nominations will not be accepted by e-mail or facsimile.

For more information, go to http://edocket.access.gpo.gov/2009/E9-7425.htm

The National Coordinating Center for the Regional Collaboratives has released its March 2009 issue of the NCC Collaborator. This issue features telehealth and telemedicine resources with the different Regional Collaboratives. To view the newsletter, go to: http://www.nccrcg.org/newsletter/NCC-Collaborator-current.pdf

With Congress recently passing the Recovery and Reinvestment Act of 2009, the Institute of Medicine (IOM) has been asked to recommend priorities for spending on comparative effectiveness research (CER) to the Secretary of Health and Human Services. The IOM’s Committee on Comparative Effectiveness Research Priorities is seeking suggestions that will reflect the needs of patients, consumers, and the American health care community.

You are invited to submit your suggestions by March 27, 2009 for incorporation into the database and committee consideration for the final report to the Secretary via the following link:

http://www.surveymonkey.com/s.aspx?sm=704JA7NisuyMhdLvocyIFw_3d_3d

Your submission will be available in a public document, but your contact information will remain confidential or you are free to leave the email and phone contact areas blank. Please feel free to share this announcement with colleagues. For questions or comments, please contact cerpriorities@nas.edu