Screening for Life: Expanded Newborn Screening Tackles Rare Disorders

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Science Feature - June 2008


Tex Med. 2008;104(6):47-51.

By  Ken Ortolon
Senior Editor

On Dec. 6, 2006, the Texas Department of State Health Services (DSHS) expanded its newborn screening program. On Dec. 7, it saved a life.

That's the day workers in the DSHS Newborn Screening Laboratory tested blood smears from 2-week-old Jessie Neal. Within a week, his pediatrician had been notified, and little Jessie had been referred to a medical geneticist in Tyler.

"It was very overwhelming because I didn't know what was going on," said Christena Neal, Jessie's mother. "I just knew something was wrong, and they were saying to get him to the doctor ASAP."

Within a few more days, the geneticist confirmed a diagnosis that Jessie had medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a rare disorder that affects the way the body metabolizes fatty acids. Left untreated, it can cause sudden death.

"We did not even realize that we even had that in our family," Ms. Neal said. "His levels were so severe that had he not been caught with the newborn screening we probably would have lost him."



Getting in Tandem

MCAD is one of 20 new genetic disorders for which DSHS screens under a bill passed by the Texas Legislature in 2005. Previously, DSHS screened only for seven disorders, but the legislature authorized the agency to begin screening for all disorders on a core panel recommended by the American College of Medical Genetics (ACMG) as funds allowed. Lawmakers also provided $3.1 million in start-up funding for the project. (See " What They're Looking For .")

Susan M. Tanksley, PhD, manager of the DSHS Biochemistry and Genetics Branch, says the agency began a cost-effectiveness study soon after passage of the legislation. The results prompted DSHS to perform the expanded screening tests in its own laboratories using leased equipment rather than contracting with a private lab.

DSHS also decided it had enough money to screen for 20 of 21 conditions listed in the ACMG core panel that were not already included in the Texas newborn screening program. Cystic fibrosis is the only ACMG-recommended condition not in the new Texas screening program.

Beginning in mid-2006, DSHS leased 10 tandem mass spectrometer systems to test for 19 of the 20 new conditions, plus two additional devices known as multiprobes to test for biotinidase deficiency, an enzyme deficiency that can result in seizures, hearing loss, and death.

DSHS decided to lease the equipment rather than buy because of the high price tag, Dr. Tanksley says. "The tandem mass spectrometers themselves cost anywhere from about $250,000 to $300,000 each," she said. By leasing, upfront costs dropped considerably.

In addition to the new equipment, DSHS added 17 laboratory staff members to run the equipment and handle the increased volume of screens.

Screening for the disorders detected by the tandem mass spectrometers began on Dec. 6, 2006, while biotinidase deficiency screening began in January 2007.

David Martinez, manager of the DSHS Health Screening Branch, says the agency also hired 20 additional central office staff and 16 regional social workers to do case management follow-up on all children identified with an abnormal screen.

DSHS estimates there were slightly more than 400,000 births in Texas in 2007. Each child was screened twice. The first blood samples were taken within 48 hours of birth, with the second taken within two weeks. That means that more than 800,000 blood specimens were screened last year.

The specimens arrive at the DSHS lab in Austin as five blood blotches on a small card. Lynette Borgfeld, MT (ASCP), manager of the Newborn Screening Laboratory, says they require five separate blood samples to ensure a quality sample that provides enough blood for the initial screen and any follow-up testing.

Dr. Tanksley says the detection rate for the new disorders is extremely low - just 0.33 percent for the screens performed using tandem mass spectrometry and 0.03 percent for biotinidase deficiency.

According to a  March DSHS newsletter  [ PDF ], in 2007, technicians detected about 15,000 abnormal screens, and about 600 infants were diagnosed with one of the 27 disorders. But only about 70 of those cases involved the 20 newly screened disorders. Among those 70 were 16 cases of MCAD deficiency; 12 cases of profound or partial biotinidase deficiency; six cases of very-long-chain acyl-CoA dehydrogenase deficiency, a fatty acid disorder that can cause seizures, coma, and death; and seven cases of 3-methylcrotonyl-CoA carboxylase deficiency, a metabolic disorder that can lead to accumulation of organic acids in the blood and urine.



Casting a Net

Dr. Tanksley says the screening process is not a diagnosis of disease.

"What we're doing is casting a net and trying to identify those at the highest risk of having a disorder," she said. Once a child is identified as being at risk, the case requires follow-up from the child's primary care physician or a specialist to make a diagnosis.

Some newborns, however, are not easy to track down, particularly when the family does not have a primary care physician, doesn't leave an address with the hospital, or moves shortly after the birth. In those cases, DSHS does whatever necessary to track down the infant and his or her family, says Paula Geurin, RN, team leader for the DSHS Endocrine Team.

"We pull out all the stops to find those children," she said, including checking for the family in crisscross directories, calling other families in the community with similar names, checking medical records to locate next of kin, and even enlisting the aid of local law enforcement officials. DSHS social workers have even tracked some families to Mexico and worked with physicians there to ensure proper follow-up testing and treatment.

Ms. Geurin says virtually all infants with abnormal screens are located and referred for follow-up to determine if a disease state exists.



Infrastructure Addressed?

The Texas Medical Association raised two concerns about the newborn screening expansion in 2005. The first was who would pay for the new screening. Few health plans covered newborn genetic screening then.

Corpus Christi medical geneticist Raymond C. Lewandowski Jr., MD, who serves as a consultant to the TMA Council on Scientific Affairs, says that is still a concern. Even though six Texas health plans now cover newborn screening, many physicians must pay the screening fees out of their own pocket, he says. (See " TMA Wins Reimbursement for Screening .")

The second concern is infrastructure. TMA and others feared Texas lacked the infrastructure to carry out the expanded screening and do the necessary follow-up to ensure that children get treatment. There also were concerns about access to necessary specialists to treat these infants and counsel their families.

Dr. Lewandowski says there is still a concern about poor geographic distribution of specialists, which means families in rural areas may have to travel long distances to get care.

"The underpopulated areas are not going to support those specialists, so people will have to travel to get the specialized care they need," he said. "The good thing is those specialists are used to coaching primary care physicians. So once the diagnosis is made and a protocol is set up, the primary care physician can provide the intervention and the specialist can help manage long distance."

He also says there still are concerns about whether DSHS is providing enough support to help primary care physicians deal with these kids.

Specifically, he says, primary care physicians need more guidance regarding the referral of children for specialty care. Many South Texas primary care physicians are immediately referring children with abnormal screens to Dr. Lewandowski, when specialty care really isn't needed, he says.

"Just yesterday I saw a child who is a sickle trait carrier, and the pediatrician recommended strongly that the family travel from Brownsville to Corpus to be told that there's no concern for their child at all," Dr. Lewandowski said. "It's a nonissue for the patient."



What Price Life?

While many of the genetic disorders DSHS now screens for are extremely rare, those involved in the screening believe the cost is worthwhile.

Eldridge T. Hutcheson, PhD, manager of the DSHS Laboratory Operations Unit, says the consequences can be profound for the children and their families if the genetic disorders are not identified.

"It completely ruins their lives, the lives of their parents," he said.

Dr. Tanksley says the cost of caring for these children over a lifetime can run into millions of dollars. Treatment, however, can be as simple as a change in diet.

"Most of the disorders are treated fairly simply with a change in diet, vitamins, and supplements," Ms. Geurin said. "It's not expensive treatment, but it has to occur fairly quickly."

Dr. Tanksley says for a disorder such as MCAD "not knowing is essentially fatal. And knowing means the child can basically lead a normal life. They just have to eat very often because they can't convert fat to energy."

Ms. Neal says Jessie must adhere to a very strict diet that limits his fat intake and maintains a high blood sugar level. But if he ever gets sick and won't eat, he must be taken to the hospital to be fed intravenously.

" We do all this work for one child. If you save one child's life, isn't that priceless?" Ms. Geurin asked.

Ms. Neal thinks so. "I can't even imagine how I would be right now if I had lost him."

Ken Ortolon can be reached by telephone at (800) 880-1300, ext. 1392, or (512) 370-1392; by fax at (512) 370-1629; or by e-mail at  Ken Ortolon .




What They're Looking For

The Texas Department of State Health Services (DSHS) now tests all infants born in Texas for 27 genetic disorders, including 20 the Texas Legislature added in 2005.

The seven disorders screened before HB 790 were:

  • Phenylketonuria,
  • Galactosemia,
  • Congenital hypothyroidism,
  • Sickle cell anemia,
  • Sickle beta thalassemia,
  • Sickle-hemoglobin C disease, and
  • Congenital adrenal hyperplasia.

New disorders added to the screening panel by the legislature's action include:

  • Argininosuccinic academia,
  • Citrullinemia,
  • Homocystinuria,
  • Maple syrup urine disease,
  • Tyrosinemia type I,
  • Medium chain acyl-coenzyme A dehydrogenase deficiency,
  • Carnitine uptake defect,
  • Long-chain hydroxyacyl-coenzyme A dehydrogenase deficiency,
  • Trifunctional protein deficiency,
  • Very-long-chain acyl-coenzyme A dehydrogenase deficiency,
  • 3-methylcrotonyl-coenzyme A carboxylase deficiency,
  • Beta-ketothiolase deficiency,
  • Glutaric acidemia type I,
  • Hydroxymethylglutaric aciduria,
  • Isovaleric academia,
  • Methylmalonic acidemia (Cbl A and Cbl B forms),
  • Methylmalonic acidemia (mutase deficiency form) (MUT),
  • Multiple carboxylase deficiency,
  • Propionic academia, and
  • Biotinidase deficiency.

For more information on these disorders, visit the  DSHS Web site .

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TMA Wins Reimbursement for Screening

Thanks to the Texas Medical Association, six of the state's largest insurers reimburse physicians for the cost of newborn genetic screening that increased when the Texas Department of State Health Services (DSHS) raised the fee from $19.50 to $29.50 per test. DSHS increased the fee when it expanded the screening program in 2006.

Aetna, Blue Cross and Blue Shield of Texas, CIGNA, Humana, UniCare, and UnitedHealthcare agreed to cover the higher cost after TMA contacted the companies about adjusting their fee schedules.  

To be reimbursed, physicians must use the HCPCS code S3620 - the Newborn Metabolic Screening Panel. It includes the test kit, postage, and the laboratory tests specified by the state.

For more information, e-mail the TMA Knowledge Center  or call (800) 880-7955 or (512) 370-1550.

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Grant Funds Newborn Screening Performance Measures

The Texas Department of State Health Services (DSHS) has received a three-year grant from the U.S. Centers for Disease Control and Prevention to develop evidence-based performance measures for newborn screening programs.

The Texas Newborn Screening Performance Measures Project received $329,000 for the first year of the project, launched in September 2007. Susan M. Tanksley, PhD, manager of DSHS's Biochemistry and Genetics Branch, is the lead investigator on the project. She says the goal is to develop a model for systematic and continuous quality assessment of those parts of the newborn screening process that come before and after the actual laboratory analysis of blood specimens. This includes collection, transportation, and receipt of blood specimens, case management follow-up on infants with abnormal screens, education of physicians and other health care professionals, and parental education.

DSHS statistics show 96.9 percent of all babies born in Texas had at least one screen in fiscal 2006. That means roughly 12,000 newborns were not screened.

Also, with more than 2,300 birthing facilities and health care practitioners submitting more than 800,000 specimens each year, ongoing educational efforts are always needed to address issues with specimen quality, timely submission and reporting, physician notifications, patient diagnosis, treatment, and ongoing evaluation, DSHS officials say.

Dr. Tanksley says DSHS assembled a team of 21 physicians, parents, state Medicaid officials, a geneticist, a health insurance representative, nurses, and social workers who will meet quarterly throughout the project. They will help DSHS officials develop and define performance measures that reveal gaps in or barriers to timely and effective treatment of infants diagnosed with genetic disorders. The team will then design a pilot program to test the effectiveness of those performance measures and recommend steps likely to improve the performance of the newborn screening process.

Dr. Tanksley says DSHS will have to reapply for additional funding for each year of the project, but she hopes the department will receive roughly the same amount for the second and third years of the project as it received for the first year.




Online CME on Newborn Screening Is Available

Texas physicians and other health care professionals can learn more about newborn screening and earn continuing medical education (CME) credit online for free.

The Texas Department of State Health Services (DSHS) and the Texas Health Steps program have created educational modules for physicians and physician assistants, nurses, midwives, social workers, and others that provide an overview of the entire newborn screening process and the often-rare disorders the program identifies.

The goal is to prepare physicians and other health care professionals to deliver timely and appropriate screening for all newborns in Texas, correctly interpret and act upon the results of the screening, and explain the screening process and its results to parents.

Specific objectives of the course include identifying the steps for collecting and submitting blood specimens, learning the basic characteristics of the 27 disorders for which Texas newborns are screened, and learning about resources available to physicians to help them ensure prompt follow-up evaluations and confirmatory testing for newborns with abnormal screens.

The online CME module is posted  online . The  Newborn Resource Center  on the TMA Web site has additional information on newborn screening, including a link to the CME module.

DSHS also has extensive information on  newborn screening . That information includes quick reference materials on newborn screening disorders for physicians and other health care professionals, fact sheets and frequently asked questions for parents, samples of the newborn screening collection form, and much more.

Margaret Bruch, LCSW, DSHS unit manager for health screening and case management, says the department also has educators available to provide in-service training for hospitals, physician offices, clinics, and other facilities.

To inquire about having one of their educators visit your office or facility, e-mail .



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