Genetic Alliance invites proposals for the Impact Awards, a program designed to expand the reach of existing outreach and education and improve access to genetic services and support. Up to $25,000 will be offered per award, and a total of $175,000 will be distributed overall.
This award opportunity is part of a larger initiative around public education and engagement of individuals and families to improve access to and knowledge about genetic services.
The full Request for Proposals is available on http://www.geneticalliance.org/programs/genesinlife/consumernetwork/ImpactAwards. Proposals will be accepted until March 14, 2014, 8:00 PM EST. Genetic Alliance will consider proposals submitted from state governments, Native American tribal organizations (other than Federally recognized tribal governments), nonprofits having a 501(c)(3) status with the IRS, and institutions of higher education. All applicants must be located in and serve the United States and/or US territories.
An informational webinar will be held on January 23, 2014, from 12:00 to 1:00 p.m. EST. Register online at http://www.geneticalliance.org/webinars.
The APHL Quality Assurance/Quality Control Subcommittee of the Newborn Screening and Genetics in Public Health Committee and the CDC Newborn Screening Quality Assurance Program are sponsoring a 2-part webinar series, Pompe Disease 101: Clinical Aspects and Screening Methods. This webinar series is geared towards those who are or may be responsible for screening for, diagnosing and treating Pompe Disease.
Part 1: Pompe Disease: From Diagnosis to Treatment
Wednesday, February 19 at 1:30-3:00 pm ET.
This webinar will provide the audience with the clinical aspects of Pompe Disease including an overview of the disease, diagnostic issues and treatment options.
Part 2: Pompe Disease Newborn Screening Methodology
Wednesday, February 26 at 1:30-3:00 pm ET.
The second webinar will highlight the methods currently in use to screen for Pompe Disease in public health laboratories, state experiences with various screening methods, and the availability of the CDC proficiency testing materials for Pompe Disease.
Due to the limited number of available phone lines, we ask that you utilize a single line for your institution, if possible. A toll-free audio conferencing bridge will allow access by phone along with internet access for viewing slide presentations.
Webinar Access Information
February 19: https://www.mymeetings.com/nc/join.php?i=PW3695585&p=9605862&t=c to access the webinar directly (conference number: PW3695585, passcode: 9605862). Or listen toll free by dialing 888.469.1558.
February 26: https://www.mymeetings.com/nc/join.php?i=PW3695732&p=9605862&t=c to access the webinar directly (conference number: PW3695732, passcode: 9605862). Or listen toll free by dialing 888.469.1558.
If you have any questions please contact Ruhiyyih Degeberg.
The American College of Medical Genetics and Genomics and Genetic Metabolic Dieticians International recently released the first-ever specific medical and dietary guidelines for the treatment of PKU. The recommendations are based upon the NIH 2000 Consensus Conference for PKU, the 2012 NIH Scientific Review Conference and a review by the U.S. Agency for Healthcare Research and Quality. The work groups who prepared these guidelines included PKU doctors from the USA and Canada. The key recommendations on the new guidelines include:
- The guidelines refer to PKU as phenylalanine hydroxylase (PHA) deficiency.
- The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
- Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
- PAH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.
- Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
- Any combination of therapies (medical foods, Kuvan, etc) that improve a patient’s blood PHE levels is appropriate and should be individualized.
- Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
- Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
- Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted. A number of screening tests are recommended to identify those in need of further assessment.
- Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.
The medical guidelines can be found at https://www.acmg.net/docs/Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf.
During its October 2013, meeting Washington State’s Board of Health recommended including Severe Combined Immunodeficiency (SCID) in the series of newborn screenings done at the Department of Health’s Public Health Laboratories. Newborn screening for SCID began on January 1st. For more information, visit: http://www.doh.wa.gov/Newsroom/2014NewsReleases/14002NewTestingforNewbornsin2014.aspx
The Genetics in Primary Care Institute has organized a 6-part webinar series entitled “Integrating Genetics Into Your Practice: What Every Primary Care Provider Should Know.” The series will focus on providing primary care providers with the knowledge and resources to better provide genetic medicine as part of a medical home.
For more information about the entire webinar series, or to register for one of the webinars, go to: http://www.geneticsinprimarycare.org/Provider%20Education/Pages/gpci-webinars.aspx
The last two webinars in the series are listed below:
Genetic Counseling in Primary Care Wednesday, January 15 at 1:00pm Eastern Emily Edelman, MS, CGC
Co-Management and Transitions for Patients with Genetic Conditions
Thursday, February 13 at 3:00pm Eastern
Kerry Jadele, MD, FAAP, FACMG
If you missed one of the previous webinars, you can find a recording at the GPCI website: http://geneticsinprimarycare.org/Provider%20Education/Pages/gpci-webinars.aspx