© 2017, GENASSIST, Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Overview: The United States prides itself as a multicultural multiethnic society. The medical community attempts to classify certain disorders by ethnic origin. The racial, religious and cultural diversity among the population makes the concept of screening on the basis of “ethnicity” alone a naïve concept.
GENASSISTTM is being contacted by a carrier parent(s) or patients with a first degree family member who is found to be a carrier for a disease that is more common in a specific ethnic group using DNA/Microarray screening that can screen patients for over 100 diseases.
Single ethnic screening tests for Sickle Cell Anemia, Alpha or Beta Thalassemia, Tay Sachs Disease, Cystic Fibrosis, Canavan Disease are being replaced by more comprehensive panels.
With traditional “ethnicity” screening:
- Black/African Americans are screened for Sickle Cell Anemia
- Ashkenazi Jews for Tay Sachs or Canavan Disease
- Caucasians for Cystic Fibrosis
- Greeks/Italians for Beta Thalassemia
Yet we know that French Canadians and Cajuns have a high incidence of Tay Sachs, Saudi Arabians have a high incidence of Sickle Cell Disease and Asians and Pacific Islanders have a high incidence of Alpha Thalassemia.
Also, many couples when questioned are either unsure or have no knowledge of their ethnic background or define themselves as multiracial and/or multiethnic.
Over the past 10-20 years the prohibitive costs of screening for carriers of various autosomal recessive diseases made consideration of more expanded screening untenable.
With single disease screening varying in cost from $250 to $350 per disease, patients and healthcare providers appropriately limited the number of disorders screened for or decided against the type of screening altogether.
Likewise, insurance companies have either been unwilling or reluctant to cover “ethnic screening” except for the most basic, due to the cost.
The Ashkenazi Screen that screens for 18 diseases that are the most common in the Ashkenazi Jewish population previously cost almost $6000 for the entire panel.
Insurance companies would only pay for a limited panel of Tay Sachs, Canavan Disease and Cystic Fibrosis.
Patients could have the expanded panel but insurance might not pay for the additional diseases unless an affected family member with a specific disease or a known carrier was identified. Therefore, the cost of screening possible “carrier” patients was financially prohibitive for most patients.
Following the trend toward safer and more accurate Non Invasive Prenatal Testing, [NIPT] more healthcare professionals are working with Microarray companies to make “Universal” carrier screening available to their patients.
Microarray is defined as a DNA platform that uses probes to identify critical sites along the genome associated with specific diseases. These Microarray technological breakthroughs now allow patients to screen for many diseases from A (Alpha-1 Antitrypsin Deficiency) to Z (Zellweger Spectrum Disorders) for a fraction of the cost.
Analysis: Universal Microarray “ethnic” screening panels are reliable, available and cost effective.
Although we cannot screen for “everything”, the panels allow increased screening for more of the disorders that can seriously impact the health of the child.
Also, the cost of screening is now within reach of most families. With carrier frequencies as high a 1:25, now is an appropriate time to review our approach.