CONTRIBUTED BY NYMAC

"Many states recognize that having a personal diagnosis or a child diagnosed with a genetic condition can be a new and worrying experience for most. It is important to understand the genetic condition(s) specific to you and/or your family and have the resources you need readily available. To understand the steps states have taken to ensure better genetic services, it is important to know where it all starts.

WHAT IS NEWBORN SCREENING AND WHY IS IT IMPORTANT? 

All states have a newborn screening program. Newborn screening refers to medical tests performed to identify babies with certain conditions, the majority of which are genetic. A small blood sample is collected by pricking the heel of a newborn baby, generally 2448 hours after birth. Every state has their own panel of tested conditions in hopes of early detection and treatment. For most of these conditions, this leads to a better outcome for the newborn.

Newborn screening programs work closely with health care providers to ensure newborns with abnormal test results receive appropriate confirmatory testing and treatment. After a child is diagnosed with a genetic condition, parents may be at a loss for next steps. To better serve families, certain states have come together in hopes of creating valuable resources for individuals and families in need.

NYMAC REGIONAL GENETICS NETWORK

The New York-Mid Atlantic Consortium (NYMAC) is one of the seven Regional Genetics Networks in the United States that is funded by the Genetic Services Branch in the Health Resources and Services Administration's (HRSA) Maternal and Child Health Bureau. It aims to serve individuals and families identified as having genetic conditions or at risk for genetic conditions through newborn screening or at any time throughout their lifespan. The NYMAC region includes the states of Delaware, Maryland, New Jersey, New York, Pennsylvania, Virginia, West Virginia, and the District of Columbia. Individuals from our region with genetic con ditions and their families, advocates, healthcare professionals and public health professionals collaborate to ensure that individuals with genetic conditions and their families have access to quality care and genetic services.

The NYMAC Regional Genetics Network (RGN) is consistently working to achieve our goals to better serve individuals and families of our region. Our goals include:

The NYMAC RGN works hard towards assisting individuals and families with their genetic service needs, including connecting people with the appropriate genetic services. It is important to us to work at our goals to ensure all those in need in our region are being served. To meet our goals, our region has many different projects.

GENETICS SERVICES REFERRAL PHONE LINE

A project that has recently started is our Genetics Services Referral Phone Line. The purpose of the phone line is to connect people looking for genetic services with a health care provider who knows about genetics. Genetic services help diagnose or give information to people at higher risk for genetic conditions. They may also include lab tests, genetic counseling, and education.

When receiving genetic services, individuals may be seen by a doctor who specializes in genetics (a medical geneticist) and/or a genetic counselor. Genetic counselors are health professionals who have been specially trained in human genetics and counseling skills. Genetic counselors meet with individuals to provide a risk assessment based on personal and/or family histories and discuss the genetic testing process and options (as appropriate). They also provide support for individuals who have or are at risk for a genetic condition, and act as a resource for individuals, families, and other health care providers.

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NEWBORN SCREENING PROGRAMS WORK CLOSELY WITH HEALTH CARE PROVIDERS TO ENSURE NEWBORNS WITH ABNORMAL TEST RESULTS RECEIVE APPROPRIATE CONFIRMATORY TESTING AND TREATMENT. TO BETTER SERVE FAMILIES, CERTAIN STATES HAVE COME TOGETHER IN HOPES OF CREATING VALUABLE RESOURCES FOR INDIVIDUALS AND FAMILIES IN NEED.

Speaking with a genetic counselor can help if you have questions or need more information about:

WHO CAN BENEFIT FROM THE PHONE LINE SERVICES? The phone line is available for anyone to call for help in locating genetic services within the region. Both individuals and healthcare providers may benefit from the services provided by the phone line. The phone line can be a resource for healthcare providers or family-led organizations, by allowing them to refer individuals to the phone line or calling in with questions they may have about the availability of genetic services.

HOW DOES THE PHONE LINE WORK? The phone line is only available certain days and times throughout the week, with hours of operation listed on NYMAC's website ( wadsworth.org/nymac/referral). For individuals looking for information outside of phone line operating hours, voicemail services are available, and the NYMAC website has a message box that allows callers to send an email message with their contact information. Staff typically respond within two business days.

Based on the zip code provided, the locations of the nearest in-person genetics services can be provided. However, we understand that travel to these sites may not be feasible for some individuals or families, and NYMAC can provide additional options. There are some medical institutions and other companies that provide genetic counseling services via telemedicine, which would mean that appointments may be able to be completed by telephone or video conference at an office closer to your home. The callers wanting information or support about a genetic disease may also be given information about the Genetic and Rare Diseases Information Center (GARD) at National Institutes of Health ( rarediseases.info.nih.gov). To increase access to quality genetic services, a Resource Repository developed by the National Coordinating Center for the Regional Genetics Networks ( nccrcg.org/resources) is also available to browse and explore.

RESOURCES FOR HEALTH CARE PROVIDERS

To achieve NYMAC's goals to better serve individuals and families of the region, resources for health care providers are also being developed. NYMAC has recently published "When to Refer" documents for health care providers to assist in identifying patients who may benefit from a genetics referral.

Genetic risk assessment and testing can be helpful in aiding in the care of individuals with concerns for a personal or family history of genetic conditions. Genetic testing and results can also impact medical management recommendations for an individual, inform unaffected individuals of possible future risks to themselves or other family members, and guide appropriate medical screenings. Knowing when it may be appropriate for an individual to be referred to a genetics service provider can be an essential first step in the diagnosis and management of genetic conditions.

These "When to Refer" documents are available on the NYMAC website. Currently, referral information is available for cancer genetics services ( wadsworth.org/cancer-referrals) and pediatric genetics services ( wadsworth.org/pediatric-referrals). Additional documents are in development.•

NYMAC is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part an award totaling $1,800,000 with 0 percent financed with non-governmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov