Madden Bill to Establish Sickle Cell Trait Diagnoses Registry and Genetic Counseling Advances

TRENTON – Legislation sponsored by Senator Fred H. Madden Jr. that establishes a central registry for sickle cell trait diagnoses, and provides for informational outreach and genetic counseling was passed by the Senate Budget and Appropriations Committee today.

“Sickle Cell Anemia is an incredibly serious disease that we have to test for at birth.  If a child is born with sickle cell, the parents need to be made aware so they themselves can get tested for the genetic trait,” said Senator Madden (D-Camden/Gloucester).  “Parents then need to be made aware of the medical and educational services that are available to them and their child.  Taking care of these individuals is of the utmost importance.”

The bill, S-2086, would require that, when a patient tests positive for sickle cell trait, the screening laboratory notify the physician responsible for the newborn’s care and document the diagnosis of sickle cell trait in the central registry established under the bill. The physician would provide the newborn’s parents with information concerning the availability and benefits of genetic counseling performed by a licensed genetic counselor. This genetic counseling would include, at a minimum, information concerning the fact that one or both of the parents carries sickle cell trait and the risk that other children born to the parents may carry sickle cell trait or may be born with the disease.

The information in the central registry established under the bill would be used for the purposes of compiling statistical information and assisting the provision of follow-up counseling, intervention, and educational services to patients and to the parents of patients who are listed in the registry including, but not limited to, the availability and benefits of genetic counseling.

Currently, all children born in New Jersey are screened for a number of genetic and biochemical conditions at birth, including sickle cell anemia. Sickle cell anemia is an inherited blood disorder where blood cells form stiff rods within the red cell, changing it into a crescent, or sickle shape. Normal blood cells are disc shaped. This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen. Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can’t reach nearby tissues.

The bill would require the Commissioner of Health to establish a system to notify the parents of patients who are listed in the registry that follow-up consultations with a physician may be beneficial for children diagnosed with sickle cell trait.

The bill was released from committee by a vote of 12-0, and next heads to the full Senate for further consideration.