Hello everyone! This is a short note to inform the members of the WANP that I was a participating member of the Washington State Department of Health (DOH) Task Advisory Committee (TAC) for the Newborn Screening (NBS) of Ornithine Transcarbamylase Deficiency (OTCD) on June 16, and July 7, 2021. To say that it is an honor and a privilege to represent the WANP at this DOH meeting is an understatement.
This is now my second experience representing the WANP on the Washington State DOH TAC for NBS. My first experience was in April 2019 where Spinal Muscular Atrophy (SMA) was discussed and voted to pass as an additional recommendation to be added to the NBS, in which subsequent testing came into effect August 2020. The addition of SMA to the NBS made Washington state effective for 32 total conditions screened in the newborn period, many of which are life threatening in the neonatal period.
NBS is an important and critical part of newborn primary care healthcare in Washington state, and remains a very effective way to prevent infantile death. Washington state law indicates that a first NBS is to be done within the 48 hours of life, with a standard of care for a second NBS at day 7-10 of life. Washington state estimates 85,000 newborn tests completed annually. Through NBS testing, the state is able to quantify about 200 infants per year with an identifiable metabolic disorder and about 1300 infants with a hemoglobin trait. Certain groups that are not captured in these numbers are some out of hospital births, declined tests, or other situations. As of August 2020, there is a one time fee of $119.30 to screen for 32 identifiable conditions. There is no fee for second, third, or even fourth NBS tests in Washington state.
This year, I sat on the TAC for the discussion of OTCD as the newest test to be added to the NBS program. Washington State currently does not have any screening on the NBS cards for this specific disorder, but other states such as California, Massachusetts, Connecticut, Maine, New Hampshire, Rhode Island, Vermont, and Puerto Rico do have screening programs in place.
For some background of this X-linked condition, OTCD is the most common urea cycle disorder (UCD) that can present at any stage in life. About 30% of cases occur during the newborn period and have extremely high mortality rates. For example, if a newborn is diagnosed with OTCD at 7 days old, there is less than a 50% chance of survival compared to older children and adults newly diagnosed. 60% of OTCD cases present in childhood, and about 10% present in adolescence and adulthood primarily. Mortality is present at any age that OTCD presents.
Based on the uric acid cycle, the deficiency of the OTC enzyme results in life threatening levels of hyperammonemia, which could lead to cerebral edema, coma, seizures, and death. If survived, often times developmental delays are common and expected, unless this condition detected early - even prenatally in genetically susceptible individuals. Certain situations such as fever or high protein diet can precipitate an OTCD event at any age, even in healthy appearing individuals without previous knowledge or family history of this disorder. This is especially true for females, who may not know that they have a defective enzyme.
At this moment, the Washington State NBS team is working closely with other states that already have this screening in place to gather more information and determine logistics in attempt to outline and execute the appropriate steps to adding this screening tool to the current list of screening tests. In order for this testing to be an effective addition to the panel, it appears that additional steps must take place to make testing more effective - increased courier options for timely delivery and testing, increased staffing of specialists and lab technicians, and increased staffing of molecular geneticists trained in this condition. Many different factors go into making decisions of adding new screening to the NBS, including cost-benefit analysis.
The most important take away from meetings like this are the implications of public health and the importance of mass screening vs. risk-based screening. No test is 100% fool proof. Very few tests are 100% sensitive or specific. But, from hearing from personal accounts of people affected by OTCD or from families who have a loved one who has passed away from OTCD or has been significantly affected, the implications are clear and certain steps can be taken toward prevention of this disease and morbidity associated in some.
Knowledge is power and, in certain situations, more information may give us just the edge that we need to overcome a challenge and/or to think more clearly about a medical condition. As a parent myself, I can identify with wanting to know the facts and wanting all the information to make a fully informed decision. As a medical provider, I can identify with both wanting to do the best thing for a family in office as well as for public health at large. NBS gives an opportunity to help families get answers that may otherwise not have them. Our advisory committee has made the general recommendation that the DOH add OTCD to the list of conditions that the NBS in Washington State offer, with the caveat that more answers are needed regarding the cost-benefit analysis.
The Washington State Board of Health meeting will take place on October 13, 2021, and will be open to the public for those interested in watching the discussion and deliberation and seeing the TAC’s recommendation of adding the OTCD screening test. I know that this recommendation did not come without significant discussion of the pros and cons of risks and medical costs, as well as both individual and public health in mind. I know that the Washington State DOH will weigh our consideration significantly for this screening exam. If passed, I look forward to being able to say that I helped make a recommendation to expand the 32 diseases on the NBS in Washington State to 33 and state providers should be able to see OTCD screening on NBS cards roughly Summer 2023. I whole-heartedly love representing the WANP members on this TAC for NBS and look forward to future opportunities to help improve newborn screening care in our state.