The National Coordinating Center (NCC) has just published the June issue of their newsletter, the NCC Collaborator. It contains an article about the key informant interviews conducted within our collaborative as well as other interesting pieces written by different regional collaboratives. To view the newsletter, go to: http://www.acmg.net/Current.pdf

Genetics in Medicine recently published an article about payment and insurance coverage of medical foods. The article reports on results from a survey of state newborn screening representatives and a review of state policies. To access the article, click here.

Dr. Laurie Seaver, a geneticist from Hawai‘i who works closely with the WSGSC, is featured in Honolulu magazine as one of the best doctors in the state. Although the article mistakenly credits Dr. Seaver with being the first resident medical geneticist in Hawai‘i, the rest of the article is great. To view the article, go to: http://www.honolulumagazine.com/Honolulu-Magazine/June-2010/Best-Doctors/

The National Coordinating Center (NCC) has just published the April issue of their newsletter, the NCC Collaborator. It contains an article about the CPT-1 DVD created by Alaska well as other interesting pieces written by different regional collaboratives. To view the newsletter, go to: http://www.nccrcg.org/AM/Template.cfm?Section=Donate3

The Genetics and Public Policy Center at Johns Hopkins University, the National Coalition for Health Professional Education in Genetics, and Genetic Alliance have teamed up to produce educational materials about the Genetic Information Nondiscrimination Act (GINA).

The public-oriented materials - including an interactive website, “GINA & You” information sheet, and slide set for advocacy organizations – are available, at http://www.GINAHelp.org

The materials for health-care providers include background documents, a discussion guide suggesting how and when to talk about GINA with patients, a teaching slide set, and case studies that describe how the law works in a variety of real-world, clinical settings. These materials are available on the website for the National Coalition for Health Professional Education in Genetics (NCHPEG), at http://www.nchpeg.org/index.php?option=com_content&view=article&id=97&Itemid=120

The Genetics and Public Policy Center (GPPC), part of the Johns Hopkins Berman Institute of Bioethics, will have all of the materials on its website, at http://www.dnapolicy.org. The GPPC’s site also includes FAQs and other fact sheets about GINA aimed at a general audience.

On May 21, 2010, Secretary of Health and Human Services (HHS) Kathleen Sebelius adopted a panel of 30 core conditions and 26 secondary conditions as a national standard for uniform newborn screening programs.

Secretary Sebelius’ decision came in response to recommendations from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), and included the addition of Severe Combined Immunodeficiency (SCID) to the previous panel of 29 core conditions, as well as the addition of related T-cell lymphocyte deficiencies to the list of secondary targets as a comprehensive entity.

Since 2005, nine conditions have been nominated for inclusion in the Recommended Uniform Screening Panel. Of these nine, three were determined by the SACHDNC as not ready for evidence review, three others are currently undergoing the review process (Hemoglobin H Disease, Hyperbilirubinemia / Kernicterus and Critical Cyanotic Congenital Heart Disease) and three completed the review process, but were not approved as part of the panel (Krabbe Disease, Pompe Disease and SCID). In February 2010, SCID was re-evaluated based on the availability of additional evidence. Upon this re-evaluation, the SACHDNC found SCID to meet the requirements for the Core Panel and formally recommended inclusion of SCID in a request to the Secretary of HHS.

SCID is a group of disorders characterized by the absence of an immune system, causing infants to develop recurrent infections, leading to death in early childhood. SCID affects a minimum of 1 in 100,000 newborns; however, some studies estimate that the actual number is closer to 1 in 40,000. Treatment in the first months after birth can prolong life and prevent infections.

In her communication to the SACHDNC regarding the decision, Secretary Sebelius noted that “adopting these SACHDNC recommendations will provide the federal guidance necessary to assist states to voluntarily bring their newborn screening programs into alignment with the most up-to-date research, technology, laboratory and public health standards and practices.”

The ACMG ACT Sheets and associated algorithms are now available on the ACMG website, after a year-long review and update process by the ACT Sheet workgroup, expert reviewers, and final board approval. The ACT Sheets now have a new format and appearance, reducing them to two pages (capable of being reproduced in a single, double-sided page) and conforming to ACMG’s “branding” requirements. Be advised that the Sheets now are located on a new page; if you have linked directly over to the ACT Sheets, please take a moment to update your links. The ACT Sheets can be found here.

On May 21, 2010, Secretary of Health and Human Services Kathleen Sebelius adopted the national Recommended Uniform Screening Panel as recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). The recommended panel includes 30 genetic disorders including the addition of SCID (Severe Combined Immunodeficiency).

Dear Colleagues,

The 2011 ICHG Scientific Program Committee would like to invite you to submit online proposals for Invited Sessions to be presented at the 12^th International Congress of Human Genetics (ICHG) meeting to be held in Montreal, Canada over the dates of October 11-15, 2011. The deadline for early submission is May 21, 2010. Proposals may only be submitted online at www.ichg2011.org http://www.ichg2011.org/

*NOTE:* The American Society of Human Genetics (ASHG) meeting will be subsumed in the 12^th ICHG meeting.

The ICHG will include invited presentations from the world’s leading geneticists, and a variety of symposia, workshops, and other sessions focusing on the most important and recent developments in research and clinical genetics and genomics. The ICHG Scientific Program Committee is responsible for selecting submitted work for presentation. Initial review of proposals will begin in June 2010.

If you know of colleagues that may be interested in submitting a proposal, please forward this email to them. Please do not hesitate to contact the committee by email at ashgmeetings@ashg.org

Sincerely,
Diana W. Bianchi, MD & David L. Nelson, PhD
2011 ICHG Co-Chairs

Upcoming Events: Genetic Alliance Webinar Series (April 30, May 12, 19 and 26 - 2010)

For additional information or to register for these upcoming events, please visit http://www.geneticalliance.org/webinars. Registration is free. If you do miss a session or a presentation, recordings will be made available online afterwards

HOT TOPICS IN GENETICS AND ADVOCACY

Friday, April 30, 2010 (12:00pm – 1:30pm EST) – The Myriad Gene Patent Case – What Does it Mean, and Why Does it Matter?

Please join the conversation regarding this high-profile lawsuit and controversial topic, moderated by Professor John Conley of the University of North Carolina School of Law. Joining him will be Hans Sauer of BIO, which opposes the plaintiffs’ position; Josh Sarnoff, who filed an amicus brief on behalf of the American Medical Association supporting the plaintiffs and Ann Waldo, Senior Counsel for Genetic Alliance.

Presenters:
John Conley - Professor of Law, University of North Carolina at Chapel Hill
Joshua Sarnoff - Professor & Associate Director, Glushko-Samuelson Intellectual Property Law Clinic, Washington College of Law, American University
Hans Sauer - Associate General Counsel for Intellectual Property, BIO
Ann Waldo - Senior Counsel, Genetic Alliance

Wednesday, May 12, 2010 (12:00pm – 1:00pm EST) – The Congenital Conditions Program: From Legislation to Implementation.

The aim of the Congenital Conditions Program is to create replicable, sustainable mechanisms for patient support and education. Since the fall of 2009, the project has undergone new developments. This webinar will discuss the legislation and the corresponding HRSA program guidance, as well as the overarching project goals of HRSA and Genetic Alliance.

Presenters:
Natasha Bonhomme - Vice President of Strategic Development, Genetic Alliance
Victoria Miller - Executive Director, Trisomy 18 Foundation
Lenee Simon - Public Health Analyst, Genetic Services Branch, MCHB, HRSA

Wednesday, May 19, 2010 (12:00pm – 1:00pm EST) – What’s New with the Newborn Screening Clearinghouse?

Genetic Alliance and partners are developing the nation’s first clearinghouse of newborn screening (NBS) information; aiming to increase the awareness of NBS and improve the understanding, and decision-making capacity of families, health professionals , industry and the public. This webinar will showcase the latest updates to the NBS http://www.geneticalliance.org/webinars C and plans for future development. Topics to be discussed include the NBSC public blog, educational features, and stakeholder feedback gathered at recent national meetings.

Presenters:
Natasha Bonhomme - Vice President of Strategic Development, Genetic Alliance
Lenee Simon - Public Health Analyst, Genetic Services Branch, MCHB, HRSA
STRATEGIES FOR SUCCESS

Wednesday, May 26, 2010 (12:00pm – 1:00pm EST) – Activism through Documentary Film

How can film transform our advocacy? In some cases, existing campaigns are captured on film, spreading a cause farther than could otherwise have been accomplished. Sometimes a film itself is the mission driver. Presenters will share their experiences working in this accessible medium and explore how art has impacted their activism.

Presenters:
Dan Habib - “Including Samuel”
Marc Smolowitz - “The Power of Two”
Anabel Stenzel - “The Power of Two”, Genetic Counselor, Stanford University Medical Center
Isabel Stenzel - “The Power of Two”