Earlier this month, the U.S. Food and Drug Administration authorized the marketing of the first test to aid in newborn screening for Duchenne muscular dystrophy, a rare genetic disorder characterized by progressive muscle loss. To read more, click here. 

The APHL NBS Health Information Technology (HIT) Workgroup identified the need for NBS programs to be able to successfully recruit qualified public health informatics candidates. The workgroup developed four editable, examples of position descriptions within this toolkit. Visit NewSTEPs.org for more HIT-related resources

Newborn Screening Symposium (NBS2020) will be held in Des Moines, IA from October 18–22, 2020. They are looking for abstract, oral presentations and posters/roundtables submissions, which may be completed online via the abstract submission site. Full details on this process are contained in the Call for Abstracts. The deadline for abstract submission is February 28, 2020. 

The Immune Deficiency Foundation launched their new website, SCID Compass, to support parents of babies with severe combined immunodeficiency. SCID is newborn screening condition in which the body is not able to fight off serious and life-threatening infections. The website provides detailed information about SCID, including an in-depth explanation of SCID, treatment options, and advice on how to care for a child with SCID. It also shares family stories and information on support services. 

NCC is excited to announce that the new clinical services directory is now live! The directory can be found at clinics.acmg.net.  You should check to make sure your listing is accurate.

DNA Day Essay Contest for Teachers and Students

For high school teachers and students: Check out the 2020 American Society of Human Genetics’ (ASHG) Annual Essay Contest for Grades 9-12. Easy to work into your biology class for extra credit, or to challenge students. Winning students receive cash awards, and their teachers win genetics materials grants. The submission site opens in early January 2020.

Contest Website

The Role of Cost-Effectiveness Analysis in Precision Medicine and Public Health Genomics:  Examples of estimates of costs, effectiveness, and cost-effectiveness in public health and precision medicine will be presented, including ivacaftor treatment for cystic fibrosis, addition of conditions for newborn screening and Lynch syndrome screening of newly diagnosed colorectal cancers. The role of cost-effectiveness and other criteria in prioritizing and evaluating public health activities in genomics and precision medicine will also be discussed.

National DNA Day is celebrating the 15th anniversary of the completion of the Human Genome Project in 2018!  The National DNA Day Network will be holding events all over the country.  Visit the website to find an event near you or to host an event yourself!

The American College of Clinical Genetics and Genomics annual meeting will be held in Charlotte, NC on April 10-14.  Sessions focus on both research and clinical topics that promote the science and the practice of clinical genetics and genomics.  Attendees will learn about the latest discoveries in the etiology and the pathogenesis of genetic disorders, the latest developments in genetic testing and screening, the laboratory’s role in the diagnosis of genetic disorders, the treatment of genetic disorders in children and adults, the delivery of genetic services, and more.

The 2018 WSRGN Regional Summit has been scheduled for Thursday and Friday, October 11th-12th, 2018 in Seattle, WA.  Please note that the Family Advocates meeting will be held on October 10th, 2018.  We are in the process of reviewing the invited attendees list to ensure that we are including the broad representation that we need.

We will be sending more information about the Summit, including the agenda, in future emails. We will also be contacting you in early September to arrange for your travel.   Please feel free to email Sylvia Mann (sylvia@hawaiigenetics.org) or Pauline Mui (Pauline@hawaiigenetics.org) if you have any questions about this year’s Regional Summit. We hope to see all of you in Seattle in October 2018!!