Committee Outlines Procedures for Making Newborn Screening Recommendations

March 23, 2010

Committee Outlines Procedures for Making Newborn Screening Recommendations

Evaluation of Evidence Must Account for Scarce Data on Rare Diseases

Philadelphia, PA. (March 23, 2010) –The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the April issue of Genetics in Medicine (, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

The articles seek to communicate a review process that includes “careful assessment of the evidence, elimination of conflicts of interest, and transparency with significant public input throughout,” according to an introductory comment by Alan R. Fleischman, M.D., and Jennifer L. Howse, Ph.D., of the March of Dimes Foundation.

Effort Emphasizes ‘Unique Role of Unique Evidence’
The Secretary’s Advisory Committee on Heritable Disorders in Newborns in Children was chartered in 2003 to make recommendations to the Secretary of Health and Human Services regarding which genetic diseases should be included in newborn screening programs. A 2006 ACMG report recommended mandatory newborn screening for a core panel of 29 conditions, most of which are currently included in the newborn screening program of every state.

“The ACMG report was enthusiastically endorsed by the Secretary’s Advisory Committee as well as the American Academy of Pediatrics, the March of Dimes and other organizations,” Dr. Fleischman and Howse write. However, some commentators have questioned the methods used in making these recommendations, suggesting that the process “does not conform to contemporary standards of evidence-based decision making.”

To address these concerns, members of the Secretary’s Advisory Committee outline the process followed in making its recommendations. A key issue is the relative scarcity of data concerning most genetic diseases in infants, many of which are very rare. The threshold for evidence is “inherently different” than that for screening of more common conditions, such as cancer or cardiovascular disease.

The multi-step process includes assessment of the availability and quality of research evidence, the accuracy of the available screening tests, and the potential benefits of early detection and treatment. These are similar to the issues involved in screening for more common diseases. However, the process includes “more flexible criteria…to accommodate the data limitations stemming from the rarity of many of these conditions,” according to the Secretary’s Advisory Committee report.

In addition to considering published scientific evidence, the Committee seeks involvement of parent/advocacy groups, as well as experts who may have specialized knowledge in this rapidly-evolving field. In outlining the process and including the input of advocates and experts, the Committee has sought to develop “consistent and transparent strategies for evidence review.”

The special issue also presents updates on the prospects for new tests for specific genetic diseases, some of which may soon be evaluated by the Secretary’s Advisory Committee:

  • A new and improved diagnostic test for fragile X syndrome-the most common inherited cause of mental impairment-which may soon make it practical to perform newborn screening and carrier testing for fragile X mutations.
  • Progress in diagnostic testing for spinal muscular atrophy, a neurodegenerative disease that is the most common genetic cause of death in infants. Last year, the ACMG formally recommended population carrier screening for this condition.
  • An update on testing for the 22q11 deletion syndrome: A highly variable condition that causes few problems in some children, learning disabilities or autism in others, and heart defects and seizures in others. Although no test is available yet, decisions about this condition are likely to set a precedent for the addition of other chromosomal diseases.
  • Connexin-26-associated deafness, a common form of inherited hearing loss that worsens over time in many children.

Note to editors: Interviews with the lead authors available upon request by contacting Kathy Beal, Public Relations Director for the ACMG: phone 301-238-4582 or e-mail A separate press release has been issued providing more detailed coverage of the new test for fragile X syndrome.

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Severe Combined Immune Deficiency Disease Pilot Study in Mass.

March 13, 2010



Some background on SCID

SCID, or Severe Combined Immunodeficiency, is a disorder that severely affects the immune system. Unless treated, babies with this disorder will die at a few months of age because they cannot fight off the usual infections that all babies get. With treatment, most babies live.

Treatment for a SCID baby includes a bone-marrow transplant. This allows the baby to live because it can make T cells that untreated SCID babies cannot make.


The purpose of the SCID pilot is to determine the best way to find SCID babies.

 Severe Combined Immune Deficiency Disease Pilot Study in Mass.

We believe that a molecular test will help us to know which babies are making T cells and which babies are not. We may try other tests to see if they can help us to predict which babies have SCID and which do not. The molecular test means that we will be looking for a piece of DNA that is present in most babies. If we cannot find the piece of DNA in a baby, then we may ask for another sample to be sure of the result or we may recommend that the baby be seen by an expert in immunology to have some additional testing done. If the baby has SCID, then the immunologist will work with specialists in bone marrow transplantation for the best plan for the baby.

We expect that once we start testing to find SCID babies, we may find babies with other immune diseases. If we do find such babies, they would also be seen by an immunologist.

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Bubble baby in charity funds role

March 2, 2010

Bubble baby in charity funds role

02 March 2010 By David Coates

A little girl who lived in isolation for the first 13 months of her life after being born without an immune system, is now the face of the charity which gave her a second chance. To see Elle Heim-Sarac bouncing around her grandmother’s living room, it is difficult to believe she is anything other than a normal five-year-old girl.

But just over four years ago she was close to death and some of the country’s leading children’s doctors were baffled by the illness which was slowly destroying her.

One occasion even saw doctors advise her mother to get the tot baptised, so convinced were they that she would not live more than a few days.

“It was just every mother’s worst nightmare,” says her mum Cyndi, 22. “I struggle to remember one day from the next. It was just a constant battle to keep her alive.

“All we knew was that she was dying, all her hair was falling out, her skin was shrivelling up, she looked like a Third World child.”

But at three months old she was seen by a visiting paediatrician at Manchester’s Pendlebury Children’s Hospital, who diagnosed Severe Combined Immunodeficiency (SCID), a very rare condition resulting from a gene defect which had left Elle with no immune system.

She and Cyndi left their home in Warton, near Preston, to go to the Children’s Bone Marrow Transplant Unit in Newcastle, one of only two centres in Britain with a hope of saving her.

Her grandmother Sherry, 50, who still lives at the family home, remembers: “Effectively, she had so few cells that those she had to fight infection had recognised her body as the infection and were attacking that.

“They said they could not do a bone marrow transplant on her because she was too poorly, so a stem cell transplant was her only hope. We waited and waited for a donor and one never came.

“Then there was one from Milan, Italy, which only had seven of the 12 matches they needed. It was a real mismatch but the doctors decided they could not wait any longer.”

What followed was weeks of aggressive chemotherapy on the tiny six-month-old to kill off her old cells.

Then there was a major operation to give her new cells which would develop into a new immune system.

But it was a waiting game with Elle living in a sterile “bubble” to protect her from any kind of germs.

Measuring eight feet square, the bubble became Elle’s “home” for the duration of her treatment as even the common cold passed on by her mother’s kiss could have been fatal.

It was during this time that the family got to know the Bubble Foundation, a charity set up to help keep these £2,000-a-day facilities running and provide halfway houses for mothers and babies, plus social care and educational support.

The survival rate of the unit has increased from 50 per cent to 80 per cent in the past five years.

Cyndi says: “I just don’t know what I would have done without them, I would not have been able to do it without them.”

Now five-and-a-half, Elle will join her mum and grandmother at their first fund-raising event for the charity, a family fun day at the Catherine Beckett Community Centre in Deepdale Road, Preston, on Sunday.

Stretched across the outside of that building will be huge poster of Elle as a baby with the words, When A Kiss Can Kill.

As the ever-smiling youngster insists on being asked a question too, after seeing her mum and grandmother take centre stage in the interview, I ask what she would like to say to the charity which helped her get better. She flashes a toothy grin and says: “Thank you.”

The fun day, including a bouncy castle, climbing wall and face painting, runs from 11am until 3pm. For further details or to donate to the Bubble Foundation e-mail:

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