TESTIMONY OF THE MAINE MEDICAL ASSOCIATION

IN OPPOSITION TO L.D. 265,

AN ACT CONCERNING SCREENING OF NEWBORNS

FOR LYSOSOMAL STORAGE DISORDERS

Joint Standing Committee on Health and Human Services

Room 209, Cross State Office Building

Wednesday, March 22, 2017, 9:00 a.m. 

Good afternoon Senator Brakey, Representative Hymanson, and Members of the Joint Standing Committee on Health and Human Services. I am Peter Michaud, Associate General Counsel for the Maine Medical Association (MMA) and a registered nurse. I live in Readfield, and I am speaking in opposition to LD 265, An Act Concerning Screening of Newborns for Lysosomal Storage Disorders.

The Maine Medical Association is a professional organization representing more than 4000 physicians, residents, and medical students in Maine whose mission is to support Maine physicians, advance the quality of medicine in Maine and promote the health of all Maine citizens. 

This bill was presented, in identical wording, to this Committee in the 127^th Legislature as LD 84. At that time, you heard many witnesses testify in support or in opposition to the bill. Every witness, and indeed every person in this hearing room, was touched by the testimony of the mother of a child who had Krabbe’s disease. Little Addilyn Davis died last fall, at the age of four.

Attached to this testimony is the testimony of Dr. Thomas Brewster in opposition to that last bill, along with other scientific evidence and material from the Legislative Record. Dr. Brewster is a geneticist who specializes in the examination of lysosomal screening disorders and related genetic diseases. His testimony will give you in-depth medical information about these disorders, their diagnosis, and their treatment.

As Dr. Brewster stated, he is a member of a group, the Joint Advisory Committee of the Maine Genetics and Newborn Screening Program, which monitors the medical evidence-based criteria for inclusion of lysosomal storage diseases and inborn errors of metabolism to the list of universal newborn screenings. That Committee was established by Maine law in 1983. It comprises pediatricians, sub-specialists, nurses, public health experts, dieticians, social workers, and families of affected children. There is also a national advisory committee, the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, that advises the U.S. D.H.H.S. on the most appropriate application of universal newborn screening tests and other matters. Dr. Brewster’s testimony also lists the criteria for inclusion of conditions in the universal screening panel in Maine.

What the bill before you seeks to do, as LD 84 last session sought to do, is second-guess these expert advisory groups and require universal screening for disorders for which there is currently no cure. This Committee understood the problems with the bill before it last session and voted the bill “Ought Not to Pass,” with a legislative sentiment recognizing both the Davis family and the work being done by the Maine Genetics and Newborn Screening Program.

There are now 33 conditions included in the universal newborn screening panel in Maine. In 1978 that number was five. These panels do their work well, they analyze the science and the medicine, and they recommend addition of new disorders to universal screening at the right time. It would be inappropriate for this Legislature to order them to add certain disorders which have not been established to be proper for universal screening at this time.

There are significant problems with adding disorders, which do not meet screening criteria. Krabbe disease screening, as one example, would place a major financial and emotional burden on families of infants testing positive on screening, but who do not have the disorder, as well as on the public health screening program and clinical services which provide the evaluation and management of these infants.  The two most compelling gaps for newborn screening for Krabbe disease are: 1. inability to determine shortly after a positive screen which infants would benefit from urgent stem cell transplant; 2. no long-term outcome data for those who have received transplant.

A false positive rate of .004% for Krabbe and the four other lysosomal disorders would result in an estimated four to five infants testing positive a year who did not have a lysosomal storage disease. Further diagnostic workups to rule-out these disorders are time consuming and costly, potentially resulting in high out-of-pocket expenses for the families along with the emotional burden and anxiety of possibly having a child with one of these disorders.

We wish there were tests, and treatments, for all these diseases. They are real tragedies. Unfortunately, medical science is, and always will be, imperfect. We don’t yet have the treatments that would cure these disorders, though our researchers are constantly working toward that goal. As Senator Anne Haskell, sponsor of LD 84, said last session, “It’s disappointing, but that’s the way it is.”

We respectfully ask that you vote LD 265 “Ought Not to Pass.” I would be happy to address any questions you may have.