On December 3rd, National Public Radio (NPR) aired a segment on whole genomic sequencing and newborn screening. This was their fifth story in their series “The $1,000 Genome.” To hear or read the segment, go to:

http://www.npr.org/blogs/health/2012/12/03/165272373/genome-sequencing-for-babies-brings-knowledge-and-conflicts?ft=1&f=1001

Share your ideas for Healthy People 2020! The Health Resources and Services Administration (HRSA) has charged the regional genetics and newborn screening collaboratives to measure and monitor Healthy People 2020 objectives. Healthy People provides science-based, 10-year objectives to improve the health of Americans. For 3 decades, Healthy People has established benchmarks and monitored progress in order to: 1) Encourage collaborations across communities and sectors; 2) Empower individuals toward making informed health decisions and; 3) Measure the impact of prevention activities. To assure that genetics and newborn screening service issues are included in Healthy People 2020 objectives, visit http://www.healthypeople.gov/2020/about/publicComment.aspx?source=govdelivery between October 15-November 2 and make public comment.

This presentation will highlight ways that Healthy People 2020 can be used, identify proven strategies and lesions learned, provide action steps for stakeholder groups, and showcase examples of stakeholders’ implementation efforts. Learning objectives include:

1. To raise awareness of Healthy People 2020’s current and planned activities for 2012-2013
2. To explore best practices and identify proven strategies and lessons learned for implementation activities
3. To identify action steps stakeholders can use to implement Healthy People 2020

This webinar will take place on November 7, 2012 at 12:00pm (EST). For more information and to reserve your spot now, please visit: https://hhs-faca.webex.com/mw0307l/mywebex/default.do?nomenu=true&siteurl=hhs-faca&service=6&rnd=0.6009711259275677&main_url=https://hhs-faca.webex.com/ec0606l/eventcenter/event/eventAction.do%3FtheAction%3Ddetail%26confViewID%3D416958177%26%26%26%26siteurl%3Dhhs-faca

The 2013 Joint Meeting of the Newborn Screening & Genetic Testing Symposium (NBSGTS) and International Society for Neonatal Screening (ISNS) will be held in Atlanta, GA on May 5-10, 2013. Abstracts may be submitted for presentations, posters or roundtables. Only abstracts submitted online will be considered. The deadline for abstract submission is November 2, 2012.

For more information on how to submit an abstract, please visit: http://images.magnetmail.net/images/clients/APHL/attach/NBSGTS_Call_for_Abstracts.pdf

The Association of Public Health Laboratories (APHL) has been awarded a five-year cooperative agreement of up to $4.1 million by the Genetics Services Branch of the U.S. Health and Human Services Health Resources and Services Administration (HRSA) to develop and manage the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs). NewSTEPs will provide quality improvement initiatives for newborn screening systems, a new data repository, and technical and educational resources to state newborn screening programs and stakeholders. For more information, go to: http://www.marketwire.com/press-release/APHL-Awarded-Multi-Million-Dollar-Cooperative-Agreement-Newborn-Screening-Technical-1663350.htm

The Association for Molecular Pathology (AMP) is in the midst of creating a framework for current procedural terminology coding for next-generation sequencing-based assays, which it plans to complete by the end of June. Following the completion of the proposal, the committee will release it for feedback from stakeholders and then submit a formal proposal to the American Medical Association’s CPT Editorial Panel.

For more information, please visit: http://www.genomeweb.com//node/1081576?hq_e=el&hq_m=1283917&hq_l=4&hq_v=2282f8562d

Opportunities to share results of well-designed quality improvement projects, regardless of their success have been limited. This has been a critical missed opportunity for spreading innovation. Recognizing this need, the Journal of Pediatrics is introducing a new section “Quality Reports” under the direction of assistant editor Alex Kemper, MD; this section will feature reports of the implementation and outcomes of quality improvement projects. It is believed that the publishing of these reports will both increase scholarly productivity around quality improvement for children’s health and improve the rigor brought to the conduct of quality improvement projects. For additional information please visit http://pediatrics.aappublications.org/cgi/content/extract/127/1/187

PerkinElmer Genetics, Inc was recently awarded a maximum $9,700,000 performance based contract by the US Department of Defense to provide newborn screening services and supplies for the members of the US Army, Navy, Air Force and Marine Corps. The Department of Defense selected PerkinElmer Genetics from a total of 3 bidders with the contract length lasting until May 6, 2012. The contracting activity is the Defense Logistics Agency Troop Support, Philadelphia, Pa. (SPM2DE-11-D-7229). For additional information please visit http://www.defense.gov//contracts/contract.aspx?contractid=4458 

A new report entitled Public Health in an Era of Genome-based and Personalized Medicine was recently released by an international, multidisciplinary expert group. The report focuses on key issues for the future of global public health given the rapid developments in genomic medicine and technologies. The expert group was convened in the United Kingdom in May 2010, by the PHG Foundation, the Center for Bioethics, the Centre of Genomics and Policy, and the Telethon Institute for Child Health Research.

To read the report and press release, go to: http://www.phgfoundation.org/reports/6617/ To read the abstract of a compendium article published in Genetics in Medicine, go to: http://journals.lww.com/geneticsinmedicine/Abstract/publishahead/Extending_the_reach_of_public_health_genomics_.99709.aspx

The NIH’s Office of Rare Diseases Research and The Wadsworth Center of the New York State Department of Health announce a national conference titled:

Genetic Diseases of Children…Advancing Research & Care
March 7-9, 2011
Sheraton New York Towers & Hotel in New York City
Genetic Diseases of Children Conference

The conference will focus on rare genetic diseases of children and offers a comprehensive agenda with five independent themes including: Reaching an Early Diagnosis; Sharing Family Experiences; Optimizing Care and Coordination of Services; Meeting Children’s Needs; and Accelerating Research.

For more information, go to: http://www.wadsworth.org/events/genetics/ or email: gdcc@wadsworth.org