Ambry’s digital CARE Program^TM improves patient care by expanding access to carrier screening and non-invasive prenatal testing (NIPT).

Ambry Genetics (Ambry), a leader in clinical diagnostic testing and a subsidiary of REALM IDx, launched a new reproductive health program that is driven by its CARE Program^TM (Comprehensive Assessment Risk and Education), a digital platform that enhances the patient and provider experience through easier access to genetic education, testing, reporting and counseling. This end-to-end program improves family planning and prenatal care by expanding access to carrier screening and NIPT, also known as non-invasive prenatal screening (NIPS), and by helping patients make informed decisions. NIPT is for screening, not diagnosis.

According to the American College of Obstetricians and Gynecologists (ACOG), prenatal screening for common chromosomal disorders should be offered to all pregnant patients, regardless of age, with NIPT being the most sensitive and specific screening test available. ACOG also recommends that carrier screening be offered to everyone in pregnancy, ideally, before pregnancy. Carrier screening helps inform a couple if they are at risk for having a child with certain genetic conditions. If an individual is found to be at increased risk for a specific condition, they should be offered genetic counseling about their risks and family planning options. The American College of Medical Genetics and Genomics (ACMG) recommends informed decision making as a part of the carrier screening and NIPT process.

Despite these guidelines, there are barriers for patients undergoing NIPT and carrier screening. For physicians, time constraints and limited resources make it a challenge to thoroughly educate every patient about reproductive health screening options, coordinate testing, provide genetic counseling and obtain informed consent. The purpose and possible results of the tests are also not always understood by the patient. According to a study published in Obstet Gynecol, women who underwent genetic screening later reported being unaware of the test’s purpose or the meaning of the results. In addition, enrollees living in zip codes with a higher proportion of Black and Hispanic/Latino residents were significantly less likely to be offered NIPT.

“We want to eliminate barriers to genetic screening so patients have the best information to inform their reproductive journey,” said Tom Schoenherr, CEO of Ambry Genetics. “With digital technology, we help busy physicians standardize and optimize processes so they can provide more equitable care through this reproductive health screening program.”

The CARE Program includes a patient portal that educates, supports and guides patients through proactive family planning and prenatal testing. The program provides comprehensive education about reproductive screening, carrier screening of reproductive partners, sensitive disclosure of test results and access to post-test counseling. These resources help physicians guide their patients in making critical decisions related to family planning and pregnancy care. The CARE Program also includes a provider portal that shows where each patient is in their reproductive health journey.

The CARE Program supports the following test types together or individually:

• NIPT: A prenatal screening test that can detect the most common chromosomal aneuploidies (Trisomies 21, 18, 13) as early as 10 weeks gestation with a single maternal blood draw. This NIPT offering also includes the option to add-on analysis for sex chromosomes, all autosomes and microdeletions.
  
  
• Carrier screening: Helps couples learn the risk of passing on serious genetic conditions, regardless of family history. Testing includes Cystic Fibrosis/Spinal Muscular Atrophy panel; Ashkenazi Jewish panel; Fragile X screening; Guidelines-Based panel and Comprehensive panel.
  
  
• Hereditary Cancer: Identifies individuals who may be at increased risk for cancer based on an inherited cancer predisposition. Tests include CancerNext®, CancerNext-Expanded® and other offerings available upon request.

For more than two decades Ambry has dedicated science and research to the health care needs of families. With the expansion of its CARE Program, Ambry provides clinicians digital tools that can enhance their ability to deliver care that is standardized, proactive and equitable.

About Ambry Genetics

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

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