Guillaume Favier PhD
Healthcare and Life Sciences, KPMG in the UK
Alasdair Milton PhD
Healthcare and Life Sciences Strategy, KPMG in the US
Julia Krauss MBA, MPH
Healthcare and Life Sciences Strategy, KPMG in the US
As innovation in new therapeutics accelerates, newborn screening programmes need to be adapted to help ensure those who would benefit from emerging treatments can access them.
While most nations agree on the overall merits of newborn screening for inherited disorders, there’s significant inequality in what they test for. Sweden tests for 24 diseases; England, Scotland, Wales and Northern Ireland – nine and France it’s just five diseases.
Early diagnosis, provided it’s accompanied by appropriate support, can be hugely beneficial to a patient and their family on a number of levels.
Families often wait many years for diagnosis of a rare disease. During that time, they endure a ‘diagnostic odyssey’ where they see one specialist after another, which can exacerbate financial strain and constant worry. If they do eventually receive a clear diagnosis, it’s often too late to make a difference as the disease has progressed.
Nations may have their own criteria, but the number of conditions currently tested with a drop of blood from a baby’s heel could be expanded to include additional diseases without further invasion or expense.
As Julia Krauss, Manager in Healthcare and Life Sciences Strategy at KPMG LLP (KPMG in the US), points out, “There may be an opportunity to expand the number of conditions tested by leveraging the same technology and analytes.”
Patients are missing out
With the current explosion of innovation, particularly in relation to nucleic acid technologies, there’s talk about treatment, but also potential cures.
Alasdair Milton, Managing Director for Healthcare and Life Sciences Strategy, KPMG in the US, points out, “If newborns are not being screened then that’s a missed opportunity to intervene very early on, and we know that earlier intervention can often lead to better clinical outcomes.”
For example, adrenoleukodystrophy is a condition whereby fatty acids build up in the brain causing irreversible, progressive loss of mental and physical functions.
It’s believed to affect between 20 and 40 babies born each year in the UK and is not routinely screened for. However, if detected early enough, a patient could receive a potentially life-saving bone marrow transplant.
If we are not screening newborns, we may miss out on the ability to intervene early.
Breakthroughs in nucleic acid technologies
Breakthroughs in nucleic acid technologies, which target the underlying drivers of a disease, are already showing great promise for conditions like spinal muscular strophy (SMA) and Duchenne muscular dystrophy (DMD).
These aren’t conditions that are routinely screened for in many nations, including the UK, and patients could be missing out, potentially leading to poor outcomes and, in many cases high mortality rates.
Milton continues, “If there are no advancements in screening, we believe patients will not be able to access therapies that are available for their disease, it will be more difficult to identify patients for clinical trials for investigational therapies, and collecting valuable information on the natural history of many diseases that could help researchers develop new treatment options will be a major challenge.”
In theory, with developments in genomics, a child’s whole genome could be sequenced at birth identifying any number of diseases and even the child’s likelihood of developing conditions like breast cancer.
Genomics England suggesting that the public widely support the idea of whole genome sequencing at birth sparks a set of new debates. Data security, privacy and how you deal with the knowledge that your child may have a disease for which there is no cure need to be considered.
In light of this, Guillaume Favier, Strategy Director for Healthcare and Life Sciences at KPMG in the UK, believes alterations to newborn screening programmes need to track with treatments, technology and the education of healthcare professionals. “At a minimum, testing should be done to detect diseases for which there are treatments or care teams in place to help alleviate symptoms and improve a patient’s quality of life,” he says.
If it’s believed that early diagnosis leads to better patient outcomes, newborn screening should be the starting point. Revolutionary therapies are knocking on the door; and nations need to be ready to welcome them.
How can KPMG help?
KPMG firms assist clients working at the forefront of the next-generation of therapies – cell and gene technologies. While these technologies are transforming patient care for certain diseases, they also bring their own unique complexities. We support clients, from small biotechs to large biopharma, contract research organisations, contract development and manufacturing organisations, and private investors, to help them successfully negotiate these challenges and seize the opportunities that cell and gene therapies present.
This article represents the views of the author(s) only, and does not necessarily represent the views or professional advice of KPMG firms.
This content outlines initial considerations meriting further consultation with life sciences organisations, healthcare organisations, clinicians and legal advisors to explore feasibility and risks.