Archive for the 'Announcements' Category

Aug 03 2010

Regulation of Direct to Consumer Genetic Testing

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On July 19th, the Food and Drug Administration (FDA) mailed letters to 14 providers of genetic tests. These companies include:

  • Graceful Earth Inc. Concerning the Graceful Earth Alzheimer’s Test
  • SeqWright DNA Technology Services, Inc. Concerning the SeqWright Genomic Profiling Service (GPS)
  • Interleukin Genetics, Inc. Concerning the Inerent Health
  • DNATraits Concerning the Ashkenazi Jews Genetic Disease Panel
  • CyGene Direct™ Concerning the Metabolic Health Assessment DNA Analysis Test
  • Consumer Genetics, LLC Concerning the AsthmaGEN DNA Test
  • Matrix Genomics, Inc. Concerning the Matrix Genomics Breast Cancer Panel
  • The Genetic Testing Laboratories, Inc. Concerning The Genetic Testing Laboratories DNA Predisposition Test
  • Sequenom, Inc. Concerning the SEQureDx™
  • EnteroLab Reference Laboratory Concerning the Gene Test for Gluten Sensitivity/Celiac Sprue
  • BioMarker Pharmaceuticals, Inc. Concerning the Gene Essence™
  • DNA Dimensions Concerning the Predisposition DNA Test
  • HealthCheckUSA Concerning the HealthCheckUSA Celiac Disease DNA Test
  • easyDNA Concerning the Genetic Predisposition Health Test

These letters were similar to those sent to five companies (3andMe, Navigenics, deCODE Genetics, Knome, and Illumina) in early June. In general, the letters stated that each of the companies is marketing a genetic test that, according to the FDA, meets the definition of a “device” under Section 201(h) of the Federal Food Drug and Cosmetic Act (FFDCA). Therefore, each test must receive FDA clearance (510(k)) or approval (PMA). The companies are asked to respond to the FDA within 15 days.

Beginning on July 19th, the FDA also held a two-day public meeting to discuss its planned regulation of laboratory developed tests which include direct to consumer genetic testing. For more information about the two-day meeting, go to: http://www.fda.gov/MedicalDevices/NewsEvents/WorkshopsConferences/ucm212830.htm

Finally, the House Subcommittee on Oversight and Investigations held a hearing entitled “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health,” on Thursday, July 22, 2010. The hearing examined the sale of direct-to-consumer personal genetic tests. For more information about this hearing, go to:http://energycommerce.house.gov/index.php?option=com_content&view=article&id=2083:hearing-on-direct-to-consumer-genetic-testing-and-the-consequences-to-the-public-health&catid=133:subcommittee-on-oversight-and-investigations&Itemid=73

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Aug 03 2010

Accepting Abstracts for 2011 American Telemedicine Association’s Annual Meeting

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The 16th annual American Telemedicine Association’s International Meeting and Exposition will be held May 1-3, 2011 in Tampa, Florida. This conference is the largest international meeting and tradeshow focusing exclusively on telemedicine, telehealth, and remote medical technologies.

Call for Presentations opened July 15, and abstract proposals will be accepted through September 15, 2010. Abstracts are welcome on any topic relating to telemedicine and telehealth, however, abstracts that focus on outcomes and evidence, best practices and emerging applications for telemedicine and telehealth are of particular interest and will be highlighted in the 2011 program. For more information about the meeting or about submitting an abstract, go to: http://www.americantelemed.org/i4a/pages/index.cfm?pageID=3773

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Aug 03 2010

Accepting Abstracts for National Conference on Genomics and Public Health

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The CDC’s 4th National Conference on Genomics and Public Health is a 3-day event that will highlight best practices in public health genomics today while preparing for the future. The conference will be held December 8-10, 2010 in Bethesda, Maryland.

Researchers, practitioners, policy makers, educators, and representatives from academia, government, health care, public health, industry, community, and consumer groups are invited to submit abstracts for oral and poster presentation. Abstracts will be accepted between August 1-31, 2010. For more information about the meeting or about submitting an abstract, go to: http://www.cdc.gov/genomics/events/conference/2010-12_NatConf.htm

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Aug 03 2010

75th Anniversary Maternal and Child Health Federal/State Partnership Meeting

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This year’s Maternal and Child Health Federal/State Partnership Meeting will commemorate the 75th anniversary of Title V of the Social Security Act. The meeting will be held on Wednesday, October 20th at the Hilton Washington in Washington DC. There is no registration fee to attend the meeting, but space is limited, so please submit your registration early to reserve a space. Registrations will be accepted through August 31, 2010. For more information including instructions on how to register for the meeting, go to: http://www.blsmeetings.net/mch75thanniversary/

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Jul 07 2010

National Coordinating Center Newsletter – June 2010

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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

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Jun 14 2010

Dr. Laurie Seaver One of the Best Doctors in Hawaii

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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/

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Jun 14 2010

National Coordinating Center Newsletter – April 2010

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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

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Jun 01 2010

Secretary of Health and Human Services Adopts National Standard for Newborn Screening

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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.”

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Jun 01 2010

Updated ACT Sheets now available on the ACMG website

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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.

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Jun 01 2010

Secretary Sebelius Adopts Key Newborn Screening Recommendations

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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).

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