This Newborn Screening Awareness month, we are highlighting key physicians who have helped newborn screening for SCID become a reality across the globe. Today, we’re thrilled to share an interview with Raz Somech, MD, PhD. His efforts were critical in promoting and confirming newborn screening for SCID in Israel.

Now, five years into Israel’s NBS screening program, over 937,953 newborns have been screened for SCID and no cases have gone undetected thanks to newborn screening. Diagnosed SCID patients have been properly assessed, diagnosed, and treated accordingly, resulting in a 91% survival rate. These incredible results would not be possible without the efforts and care of physicians like Dr. Somech! We hope you enjoy our interview and gain some insights about the value of newborn screening worldwide.

  1. Why is newborn screening so important for the Primary Immunodeficiency community?
    There is nothing more valuable than saving a baby's life. The ability to identify a sick baby even before the appearance of his/her clinical symptoms is extremely important. Certainly, when it comes to life-threatening diseases such as SCID. Early detection leads to early treatment and the highest chance of success and have favorable outcome.

  1. What do you wish more parents and families knew about newborn screening?
    The purpose of SCID screening is to identify a disease that can be successfully treated if diagnosed in time. Those positive screening results should be referred to a center that specializes in the field to perform a thorough investigation in order to verify the screening results. Until the investigation is complete, caution must be taken in all matters related to hygiene and preventing infections.

  1. What advice and helpful tools would you give to those countries still not screening?
    The SCID screening saves lives and saves financial expenses. Newborn screening tests have revolutionized everything related to the identification and treatment of babies with certain diseases. The impact on the individual patient, the family and society as a whole is enormous. The strength of a healthy society is measured, in part, by the ability to treat the individual patient, even if s/he has a rare disease. In countries where there is a high rate of consanguineous marriages and therefore also a high rate of genetic diseases of the immune system, the screening is highly recommended.

  1. Do you anticipate any changes to the way newborn screening is conducted in the future?
    I hope that additional diseases of the immune system will be added to the panel of screening tests and thus lead to quick and successful treatment for many babies. I predict that in the coming years screening will move from specific molecular tests to broad genetic evaluations that will enable early detection of many more diseases.

  1. How has the Foundation impacted your work with newborn screening?
    The JMF led by Fred and Vicki Modell pioneered the field. They understood the effect of screening on the individual patient and the contribution to society. The Foundation led the efforts of screening for SCID throughout the years, and gave professional and explanatory support in everything. They created a positive media response for the introduction of SCID screening and in saving the lives of hundreds of babies who were born without an immune system. Thanks to the Foundation, their lives were saved.

  1. Is there any advice you’d like to offer patients and families who test positive for SCID?
    Be optimistic, trust your doctors, stick to their advice, and understand that early diagnosis is important and may lead to better treatment outcomes. We have the capability to offer affected babies a fair chance to live a normal life.


    Pictured below: Vicki and Fred Modell alongside Raz Somech, MD, PhD.