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Shire Global

Better Health, Brighter Future

Newborn Screening

Rare genetic disorders are often misunderstood, under-diagnosed, and can be potentially life threatening. The rates of newborn screening and the number of conditions for which newborns are screened vary widely throughout the world. Consistent with our goal of delivering innovative therapies to underserved patient populations, Shire is dedicated to the advancement of research, technologies, outcomes and access to newborn screening of heritable disorders where early identification and diagnosis is imperative to significantly reduce the morbidity and mortality of disease. Central to Shire’s mission, newborn screening enables individuals with life altering conditions to lead better lives by promoting early diagnosis and access to medical interventions and treatments. 

Shire is supportive of newborn screening where there is an accepted treatment or intervention for patients found to have the condition which is being screened. Shire is committed to the expansion of newborn screening to conditions in which treatments are in development and where the availability of screening for the disease in question in the newborn period would potentially allow for an improved clinical outcome. Early detection of conditions can result in averting serious problems such as impaired physical function, intellectual disabilities, and death. We recognize the many difficult ethical questions that surround newborn screening. We encourage and support the on-going, robust dialogue among patient advocates, bioethicists, health care providers, and others on this challenging topic. Shire will continue to seek, support, and respect consensus statements concerning population based screening for rare genetic disorders while endeavoring to support advances in newborn screening capabilities for conditions where early diagnosis is important. 

In advancing this goal Shire is dedicated to developing and maintaining a thorough understanding of policies related to newborn screening throughout the world. In addition, we will work closely with all internal stakeholders and external stakeholders such as parents, patient advocacy groups, health care providers, and government agencies to advance access to newborn screening while upholding high standards of ethics and transparency.

We believe our commitment to advancing innovation for rare diseases and specialized conditions is how we are making a significant contribution to society through the impact we have on the lives of patients, their families, and caregivers.


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