PJ Moloney, Managing Director, P4ML, Cork

Precision medicine in ‘Newborns’ requires precision diagnostics early on a change of the current care

According to the World Health Organization 1 in 6 women develop complications that threaten her or her baby’s life. Every 2 minutes a mother dies from complications related to pregnancy or childbirth. Every minute around the world 250 babies are born. 29 of these are born too early; sadly 5 are stillborn, and 5 more die of complications.

Genetic diseases are the leading cause of death in infants, especially in neonatal and pediatric intensive care units (NICU and PICU). Since disease progression in infants is often extremely rapid, etiologic diagnosis must be equally rapid to inform interventions to lessen morbidity, mortality, and suffering. Unfortunately, this is rarely the case for genetic diseases today. Rapid diagnosis is arduous since there are 5,202 known genetic diseases and their presentations often overlap in infants. Standard genomic sequencing tests take weeks to months to return results, which is too slow to guide NICU or PICU management.

Inherited metabolic disorders, also known as inborn errors of metabolism, are rare genetic disorders that often disrupt bodily processes such as the conversion of nutrients into energy and structural molecules, the breakdown and clearance of waste, or the synthesis and function of signals. The disorders are usually caused by defect proteins (enzymes) that help facilitate these processes. Generally, IMDs represent a group of about 500 rare genetic disorders with an overall estimated incidence of one out of 2,500 people.

P4 Medical Laboratory (P4ML) is Ireland’s first ever precision medicine company with an aim to revolutionise the way we think about health by promoting the maintenance of wellness and the prevention of disease. The company’s vision is one of collective health intelligence through the building of a global medical community, where data and knowledge is shared. P4ML supports connectivity of clinicians and data sharing in order to inform, empower and transform health and wellness.

The term P4 refers to precision medicine which provides “Predictive, Preventive, Personalised and Participative” information, allowing for the creation of a unique and personalised medical pathway for each individual.

The company’s objective is to make genetic testing and genome sequencing an integral element in mainstream healthcare. This, along with a MultiOMICS approach, will deliver a more targeted approach in dealing with potential DNA mutations. P4ML’s goal is to provide new possibilities and actionable insights to improve the lives of patients.

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