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

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

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/

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.

The Genetics in Primary Care Institute is pleased to announce the launch of its new Web site, GeneticsinPrimaryCare.org! The new site is a clearinghouse for practical tools and information for primary care providers regarding genetics and genomics, genetic testing, family history, genetic counseling, and patient communication.

We are excited to update the STAR-G website with a NEW Parent Fact Sheet for Critical Congenital Heart Disease.  As you may recall these fact sheets are written specifically for families that have received an initial diagnosis of one of the disorders screened by newborn screening and want to know more general information. They address issues and answer questions that are of particular concern to parents.

We would like to thank everyone who was involved in the review and production of this fact sheet.

Link to fact sheet: http://www.newbornscreening.info/Parents/otherdisorders/CCHD.html

The Asian & Pacific Islander American Health Forum has developed a toolkit about the Affordable Care Act geared towards members of the Asian and Pacific Islander communities. To access the toolkit, go to: http://www.apiahf.org/policy-and-advocacy/health-care-reform-resource-center/community-members/affordable-care-act-turns-3

Seattle Children’s Hospital is presenting their 2013 Pediatric Bioethics Conference entitled Cases that Keep Us Awake at Night: Challenges in Pediatric Bioethics on July 19 and July 20 in Bell Harbor International Conference Center in Seattle.

The conference organizers are currently accepting abstracts for presentation. Abstract submission deadline is April 12^th.

For more information about the conference, or to submit an abstract, go to: http://www.seattlechildrens.org/pediatric-bioethics-conference/

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group recently published a new recommendation regarding genetic testing for patients with metastatic colorectal cancer. After reviewing the evidence, the EGAPP Working Group found that, for those patients being considered for treatment with cetuximab or panitumumab, there is convincing evidence to recommend clinical use of KRAS mutation analysis to determine which patients are KRAS mutation positive and therefore unlikely to benefit from these agents before initiation of therapy. The EWG found insufficient evidence to recommend for or against BRAF V600E testing, NRAS testing, PIK3CA testing, and loss of expression of PTEN or AKT proteins for the same clinical scenario.

For more information, go to: http://www.egappreviews.org/recommendations/EGFR.htm

For the EGAPP publication, go to: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2012184a.html

The U.S. Department of Health and Human Services recently revamped its official health reform websites (healthcare.gov and cuidadodesalud.gov), and released several new resources for educating the public about the health insurance marketplaces. Also known as exchanges, the marketplaces will open for enrollment in October and new plans and benefits will begin as early as January 2014. Several great new resources are:

• A brief video explaining the marketplaces ; and
• A consumer education PowerPoint

New regulations and recommendations

An important part of implementing the Affordable Care Act is the federal rulemaking process, in which executive agencies issue guidance and invite public comment on the details of how the law will work. In the months since the November elections, a number of new regulations have been issued by the departments of Health and Human Services, Labor and Treasury. For brief explanations of each rule, to see other rules recently released and to learn more about the rulemaking process, visit our ACA Implementation page at http://www.apha.org/advocacy/Health+Reform/implementation/.

New “streamlined applications for health insurance”

Also recently released for public review are drafts of new streamlined applications for health insurance, which are intended to be “single points of entry” to various coverage options. The applications are meant to allow people to purchase private insurance in the individual or small business marketplaces, and at the same time to assess their eligibility for assistance through Medicaid, the Children’s Health Insurance Program or the advanced payment of tax credits — subsidies to purchase coverage in the Marketplaces. The Centers for Medicare and Medicaid Services is inviting public comment on the individual, small business owner and small business employee applications. To demonstrate the user experience, CMS has posted two videos of the application being completed, one by an individual and one by a family of three.

State decisions on coverage expansions, marketplaces and essential benefits

While the federal government has been busy issuing regulations, resources and more over the past several months, the states have had some big decisions to make.

Medicaid expansion:

Last summer the Supreme Court upheld the Medicaid expansion but restricted the federal government from penalizing states that don’t expand their programs. The states that do opt in will receive generous federal funding to expand eligibility to nearly all residents with incomes up to 133 percent of the federal poverty level, starting in January 2014. As of Feb. 9, 24 states will expand or are likely to, 20 won’t expand or are not likely to, and seven are still undecided. To track the status of your state, you can go to the following websites:

• National Association of States United for Aging and Disabilities
• State Refor(u)m
• Advisory Board Company

Insurance marketplace design:

States have several options for setting up the new health insurance marketplaces, also known as “exchanges”: they can run their own state-based marketplace; opt for a state-federal partnership or largely opt out and request a federally-facilitated marketplace. States had until Dec. 14 to choose a state-based model; 17 states and the District of Columbia are doing this. In January, $1.5 billion in new grants went to 11 states working to establish their exchanges. Feb. 15 is the deadline for states to choose a partnership model; seven states have done so as of Feb. 8. So far, 26 states will default to federally-facilitated marketplaces, but this number may change as states finalize their decisions and HHS reviews their plans. The Kaiser Family Foundation is tracking this information at http://statehealthfacts.kff.org/comparetable.jsp?ind=962&cat=17&sub=205&yr=1&typ=5#notes-1.

Essential health benefit “benchmark” plans:

Regardless of what type of marketplace a state chooses, each state has also had to choose one of several types of insurance plan to indicate to insurers the “benchmark” for required coverage of ten categories of essential health benefits. States had until Dec. 26 to choose their benchmark or default to the benchmark plan by the federal government. Kaiser Family Foundation has more information on EHB and the states’ decisions at: http://www.kff.org/healthreform/quicktake_essential_health_benefits.cfm