I am writing to urge your support of House Bill 1672 requiring disclosure to parents or guardians that newborn screening blood spot samples will be stored indefinitely by the State and could be used for research. The maintenance of newborn screen blood spots both continues Texas’ tradition of excellence and further strengthens the State’s newborn screening program. It ensures that newborn screening testing procedures are accurate and up-to-date and bolsters the work of the clinical research community.
CARES Foundation, Inc. is a nonprofit organization that provides support to individuals affected by Congenital Adrenal Hyperplasia (CAH) and their families. Our community has long experienced the devastation that can occur when states do not offer comprehensive, universal, mandated screening as is available in Texas. We also know the value of genetic information to our children’s future and the need to protect it from misuse.
No one ever imagines their pregnancy and unborn child to be anything but normal and healthy. In the case of autosomal recessive diseases like CAH, where both parents must be carriers to have an affected child, there is rarely any family history to indicate potential for inheritance. Because most families would have no reason to suspect CAH, they would see no reason to test their infant for this disease. In the absence of mandatory (opt-out) screening policies, families affected by CAH and other similar conditions would never even have their infant tested.
CAH in its severest form is a life-threatening disorder. If undetected at birth, it can lead to adrenal crisis and death. CAH-affected infants show no outward signs of the disorder and in the absence of newborn screening, are sent home only to present a few weeks later for urgent medical attention at a time when they are beyond resuscitation. On the other hand, if CAH is detected in children before adrenal crisis, as is possible under newborn screening programs such as Texas’, then they simply need inexpensive medications to live completely normal lives. Despite this favorable prognosis, there is no cure for CAH and without research there never will be improved screening processes or better treatments much less a cure.
For these reasons, the collection and retention of blood spot samples for the purposes of calibrating newborn screening equipment, evaluating existing newborn screening tests to reduce the number of false positive and false negative results, developing new infant screening tests for heritable and congenital disorders, and other population-based health studies is vital.
Simultaneously, we recognize the need to protect the genetic information of individuals and applaud the protections provided by the federal Genetic Information Non-discrimination Act (GINA). Even further protection is offered under federal regulations and university policies requiring Institutional Review Board (IRB) approval for research with human subjects including dried blood spots.
On behalf of Texas’ children and families and over 3200 members of the CARES Community, I urge your support of House Bill 1672. The power to save lives is in your hands.
