GenQA seeks blood donations to check quality of newborn screening

Call in UK for families affected by 3 genetic diseases, including SMA

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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Blood is shown in vials and in a pipette.

GenQA is asking people with spinal muscular atrophy (SMA) and their families in the U.K. to donate a small blood sample that will help the company determine if newborn screening tests are accurate and reliable.

The U.K.-based company, operated by the Oxford University NHS Foundation Trust, provides external quality assessments to genomic testing laboratories. Such external assessments compare the results of tests done in laboratories involved in newborn screening programs with the actual results for a given sample.

Using blood samples from patients and families living with SMA, GenQA will place a few drops of blood onto special newborn screening cards. Then, three of these cards will be sent to participating labs, which will do the testing and send the results back to GenQA. With this information, the company can tell if the labs are getting accurate results on their tests, and provide advice to improve performance quality.

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Anyone with genetic diagnosis and their family members can donate blood

The call is also for those who have cystic fibrosis (CF) or medium-chain acyl-CoA dehydrogenase deficiency (MCADD), two other genetic diseases. Anyone with a confirmed genetic diagnosis of any of these three conditions, as well as family members with or without a disease-causing mutation, are eligible to donate a 10 mL blood sample.

Those interested in donating can contact GenQA via [email protected] to ask for more information or to schedule a time to provide their sample.

All blood donators must fill in a consent form that will go along with their blood sample. Any identifying details will be removed before the sample is sent to the lab for testing.

Newborn screening tests are usually conducted within a few days of birth to identify babies at risk of developing rare diseases. This would allow the newborns to receive timely and appropriate care, which gives them the best chances of living healthier lives.

In the U.K., all babies get a heel prick to collect a few drops of blood on a special card that is sent off to a reference lab for testing for a panel of diseases. That panel currently includes CF and MCADD.

SMA is not yet included in the panel, but Oxford University is running a pilot study to conduct routine genetic testing for mutations that are known to cause SMA. Testing positive soon after birth means babies may have access to treatments earlier in their disease course, or even before symptoms develop.

It’s known that available SMA treatments are most effective before there’s widespread damage to nerve cells. Newborn screening, coupled with early access to treatments, increases the chances babies will be able to walk as they grow, a motor milestone that’s often not reached without treatment in patients with the most severe SMA types.