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”

The HRTW is offering a topical call on Wednesday, April 21, 2010 at 3:00pm (EST) for all Title V CYSHCN Directors, Transition care workers, NBS Educators, F2F Centers, Family and Youth Leaders, MCHB, Medical Home, and others.

The main focus of the call will be to:

1. Describe changes in state CYSHCN systems promoting transition preparation.
2. Describe progress in promoting transition from pediatric to adult medical homes.
3. Describe youth leadership development
4. Discuss promoting involvement in personal decision making in preparation for transitioning to adult health.
5. Discuss HRTW programming with families to help them plan for transition with their teens.
6. Discuss examples of inter-agency collaboration to promote transition to adult health care with funding, work, and community involvement.

To join the HRTW call:

Dial-in Number: 1-800-567-5900 Access Code: 870036#

The call is FREE, but pre-registration is strongly recommended to help us understand who is participating and plan for further calls. Pre-register for this event and see more information at http://www.hrtw.org/hrtwu/calls/04-21-10_Overview.html

Powerpoints, handouts and resources will be posted during the next few days on the materials page at http://www.hrtw.org/hrtwu/calls/04-21-10_Materials.html

Archives from the 13 previous HRTW Topical Calls are at: http://www.hrtw.org/hrtwu/topicalCalls.html

If you have any questions or comments, please contact Toni Wall (PI & Director of HRTW) at toni.g.wall@maine.gov or toniwall@hrtw.org

The Maternal and Child Health-Public Health Leadership Institute (MCH-PHLI) is now accepting applications for Fellows for the 2010-2011 year.

Through this program, Fellows receive 10 days of intensive leadership development, ongoing personal executive coaching, and feedback on seven of the leading psychological assessment instruments used in top leadership development programs today. The curriculum prepares leaders to advocate for policy issues, think critically, analyze situations and data around MCH issues in public health, to speak to the media, and to build effective teams and partnerships. Fellows will learn negotiation skills, how to manage difficult conversations, how to create emotionally intelligent workplaces, cultural flexibility and competence.

This program is targeted to mid-to-senior level leaders in MCH Title V and Family organizations, as well as non-profits who serve MCH audiences. Each Fellow completes a Personal Leadership Project that will demonstrate impact in their area of MCH. Generous travel scholarships are available to Fellows in this first cohort. Learn more and apply at www.mchphli.org. Applications close February 15, 2010.

The Genetic Metabolic Dietitians International (GMDI) 2010 conference will be held in Baltimore, Maryland on April 15-17, 2010. The primary focus of this conference is treatment for inborn errors of metabolism through dietary intervention. It is an appropriate forum for metabolic physicians, metabolic dietitians, fellows, genetic counselors, specialized nurses, and anyone involved in the long term follow up of individuals diagnosed with an inborn error of metabolism, either after having a positive newborn screen, or after becoming symptomatic. Further information about the program and registration can be found on the GMDI website: www.GMDI.org.

In a historic vote on January 21, 2010, the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the uniform newborn screening panel. The ACHDNC adopted a list of 29 recommended conditions in September 2005. Since that time, SCID is the first condition to be added to this list for inclusion into mandatory newborn screening conducted by state public health programs.

SCID is a group of disorders characterized by the absence of an immune system, causing infants with SCID to develop recurrent infections, leading to death in early childhood. SCID affects a minimum of one in 100,000 newborns; however, some studies estimate that the actual number is closer to one in 40,000. Treatment in the first months after birth can prolong life and prevent infections. Wisconsin and Massachusetts both developed cost-effective methods for universal screening for SCID, and a number of other states have started to train their laboratory personnel to start screening for SCID.

Dr. Rebecca Buckley of Duke University Medical Center published the first article showing the effectiveness of early bone marrow transplantation as a treatment for SCID in 1999 in The New England Journal of Medicine. After working for 13 years to get SCID added to the recommended panel, the vote came as “a dream come true.”

The Chairman of the ACHDNC, Dr. R. Rodney Howell, noted that “[the Advisory Committee] has carefully reviewed the detailed, updated evidence review for SCID and related T-lymphocyte deficiencies and found the condition(s) ready to be added to the uniform and secondary panel. … The Advisory Committee, however, understands that there will be additional work from the NIH, HRSA and the CDC to be reported back to the Committee as this newborn screening proceeds.”

The ACHDNC was established in February 2003 to advise the Secretary of the U.S. Department of Health and Human Services regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders. There is currently a formal process for individuals or organizations to nominate a heritable disorder to be considered for inclusion in the recommended uniform screening panel (http://www.hrsa.gov/heritabledisorderscommittee/nominate.htm).

“This recommendation by the [Advisory] Committee is significant for both newborn screening and for the evidence-based process for decision making,” declared Sharon Terry, president and chief executive officer of Genetic Alliance, who serves as a liaison on the ACHDNC. “The recommendation includes surveillance, education and quality control, to be contributed by the National Institutes of Health, Health Resources and Services Administration and Centers for Disease Control and Prevention, and thereby supports the development of a systems approach in newborn screening.”

To date, six conditions have been brought to the Advisory Committee: Fabry Disease, Krabbe Disease, Niemann-Pick Disease, Pompe Disease, Severe Combined Immunodeficiency (SCID), and Spinal Muscular Atrophy (SMA). Thus far, only SCID has been recommended for addition to the uniform screening panel. By law, the Secretary of Health and Human Services must respond to the recommendation within 180 days.

Vicki Modell, co-founder of the Jeffery Modell Foundation, stated that “[the] unanimous vote to add SCID to the National Newborn Screening Core Panel was a milestone victory. We thank the Committee for their positive decision on behalf of all the babies with SCID that we lost, the babies today who have hope, and for all the future babies yet to be born, who will have a really good chance at life.”