Archive for April, 2013

Apr 22 2013

Webinar on Telegenetics in Hawaii

Published by under Education

On April 16th, Lianne Hasegawa gave a presentation entitled, “Using Telemedicine to Provide Pediatric Genetic and Follow-up Newborn Screening Services” on a webinar hosted by the South Central Telehealth Resource Center and the Heartlands Regional Genetics and Newborn Screening Collaborative. To view a recording of this webinar, go to: http://learntelehealth.org/media/thought-symposium/using-telemedicine-hawaii/

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Apr 22 2013

Webinar On Payment Reform and the Affordable Care Act

Published by under Education

The National Coordinating Center for the Regional Genetics Collaboratives is hosting a webinar about payment reform and the Affordable Care Act presented by Meg Comeau from the Catalyst Center. The webinar is being held on Wednesday, April 24 at 2:00pm Pacific time.

To register for this webinar, go to: https://www2.gotomeeting.com/register/307585826

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Apr 22 2013

UW Professors Develop Newborn Screening Test for Lysosomal Storage Disease

Published by under Announcements

UW chemistry professors Michael Gelb and Frank Turecek, and UW professor of pediatrics C. Ronald Scott have developed a newborn screening test that can detect infants who are at risk for 15 different lysosomal storage diseases. Although the new methodology has been developed, it is still in use as a pilot program in Washington.

To read more about this discovery, go to: http://dailyuw.com/archive/2013/04/21/news/uw-professors-develop-new-test-newborns

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Apr 16 2013

Cooperative Agreement to Support Navigators in Federally-facilitated and State Partnership Exchanges

Published by under Announcements

The Center for Consumer Information and Insurance Oversight released a funding opportunity entitled, “Cooperative Agreement to Support Navigators in Federally-facilitated and State Partnership Exchanges.” This funding opportunity will enable recipients to operate as Exchange Navigators in States with a Federally-facilitated Exchange (FFE), as authorized under the Affordable Care Act.

The application due date is June 7, 2013. No less than $600,000 will be awarded to at least two types of applicants in each FFE/State Partnership Exchange service area.

For more information, go to: https://www.grantsolutions.gov/gs/preaward/previewPublicAnnouncement.do?id=17645

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Apr 16 2013

Introduction to NewSTEPs Webinar Available

Published by under Announcements

A recording of the webinar entitled “Introduction to the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs)” is currently available. NewSTEPs is a national newborn screening project designed to provide data, technical assistance and training to newborn screening programs across the country and assist states with quality improvement initiatives. This webinar reviews the purpose of NewSTEPs, and is intended for all newborn screening stakeholders and participants.

To view the recorded webinar, go to: https://hrsa.connectsolutions.com/p5py55i74gn/

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Apr 10 2013

ACMG Releases Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

Published by under Announcements

With the recent uptake of whole genome sequencing (WGS) and whole exome sequencing (WES) in the clinical setting, the American College of Medical Genetics and Genomics (ACMG) has developed guidelines for reporting incidental findings for both the laboratories offering the testing and the health care providers ordering the testing.

During the past year, an ACMG working group composed of clinical and laboratory geneticists created recommendations for reporting incidental findings from clinical exome and genome sequencing. These recommendations were reviewed by outside experts and approved by the ACMG Board. Incidental findings in genomic sequencing refer to results that do not relate to the indication for ordering the test, but are of medical value or utility to the health care provider and the patient. Highlights from the recommendations are below.

  • When an incidental finding has been made within a list of disorders described in the publication, the finding should be reported by testing laboratories to ordering health care providers. The publication specifies 57 genes with associated disorders that are the minimum to be reported by testing laboratories. Testing laboratories performing WES/WGS are recommended to actively sequence and report specific types of mutations in the 57 genes. These disorders were determined by meeting the following criteria:
    • Preventative measures and treatments exist
    • Patients might not experience symptoms for a long period of time
    • The genetic mutations are well recognized and known to have a strong link of causation
  • This list of disorders will evolve over time as more is learned about genetic diseases. Currently the list will be updated annually at a minimum.
  • Health care providers offering genomic sequencing should provide pre-test and post-test counseling to patients specifically including the possibility of incidental findings and how they will be handled. Patients and families considering or undergoing genomic sequencing should be referred for genetic counseling.
  • The health care provider who ordered the test should be able to interpret the incidental findings within the medical and family history of the patient.
  • Even though some of the genetic disorders linked to the 57 genes are adult onset, pediatric patients will receive the results for these disorders regardless of their age. Therefore, when a family decides to pursue clinical genomic sequencing, incidental findings within the minimum 57 genes will be reported. There is no opt-out for incidental findings in any of these 57 genes. This is potentially important for the parents and families of children who undergo testing, as they may discover that they are also at risk for an adult onset disease, information they might not have known otherwise.
  • Similar to other genetic testing, a negative incidental findings report does not eliminate the possibility of disease.
  • These recommendations do not apply to research genomic sequencing. They apply only to clinical diagnostic genomic sequencing. These recommendations also are not designed for genomic sequencing in the settings of preconception, prenatal, newborn, or healthy adults and children.
  • It is estimated that only 1-2% of patients completing genomic sequencing will have an incidental finding for which these recommendations are applicable.

Full text of ACMG recommendations on incidental findings can be found at: http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf

Preceding the release of recommendations on incidental findings, ACMG released “Points to Consider in the Clinical Application of Genomic Sequencing” which can be found at: http://www.acmg.net/StaticContent/PPG/Clinical_Application_of_Genomic_Sequencing.pdf

If you are interested in dispersing information about the ACMG incidental findings recommendations to your advocacy, public health, or health care provider networks, please contact Jenn at jennifer@hawaiigenetics.org as these documents will soon be available.

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Apr 10 2013

Webinar on Understanding Essential Health Benefits

Published by under Education

The Global Genes, RARE Project are hosting a webinar entitled, “Understanding Essential Health Benefits: How this provision of the Affordable Care Act could affect access to rare disease treatments and therapies.”

The webinar will be held on May 1st at 11:00am Pacific time.

For more information or to register, go to: http://globalgenes.org/essential-health-benefits-webinar/

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Apr 01 2013

Funding Opportunity for Newborn Screening for Severe Combined Immunodeficiency

Published by under Funding

The CDC has announced a funding opportunity entitled, “Program to Support New Implementation of State or Territorial Public Health Laboratory Capacity for Newborn Bloodspot Screening of Severe Combined Immunodeficiency (SCID).” The purpose of this funding opportunity is to increase the number of states and territories with active SCID newborn screening programs, and thereby identify and refer for treatment a greater number of affected newborns. Approximately $1,800,000 will be available to fund up to three awards (the size of each award will also vary but will not to exceed $400,000).

The application due date is May 28, 2013.

Funding opportunity number: CDC-RFA-EH13-1303

For more information, go to: http://www.grants.gov/search/search.do;jsessionid=QWQsRVJSCNn1L2Jw7Tb2wGcy7bVp0mSQJR6HYXVthgv41YYpY7mq!934180115?oppId=228474&mode=VIEW

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