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).