HCR.20.035 – Harnessing the power of the heel prick towards creating a personalized Biomedical Passport

Route: Health care research, sickness prevention and treatment

Cluster question: 081 How will our knowledge of genetics play a role in analysing, screening for, and treating diseases?

Early diagnosis of (rare) genetic diseases can drastically improve early intervention and positive outcomes and revolutionize primary care. As most diseases have a genetic component, it is essential to stratify individuals not only on their family health history, but also on information from their DNA. The national “heel prick” screening programme is vital for the early diagnosis of congenital conditions, including rare genetic disorders, such as phenylketonuria, a debilitating condition whose effects can be delayed with early intervention. However, this valuable source of genetic information is largely under-utilised, as the sample and data are discarded after five years. The heel prick screening programme already provides the social and technical infrastructure required to sample every individual. Extending this screening programme to a broader genomic analysis, and incorporating pharmacogenetics, (the differential response of individuals to the same medication due to genetic differences), would greatly benefit society and improve healthcare in a sustainable and cost-effective way. We will develop a technological framework that will enable individuals to have access to, and be in full control of, their own genomic information from cradle to grave. An individual Biomedical Passport of genomic data, would enable early diagnosis of a broader range of congenital (rare) diseases, and form the basis for personalised, preventative measures, including pharmacogenetics. Data would be available for consultation by general practitioners, pharmacists, specialists, and also provide new mechanisms for clinical research. To achieve such a framework, analyses must be robust and reproducible, data must be secure, but integrable in electronic patient files, and storage and sharing comply with GDPR. By building on emerging technologies, such as blockchain for data security, FAIR data for sharing, and AI for advanced analytics, the Biomedical Passport would build bridges between clinical research, healthcare and the citizen to develop early personalised approaches to diagnostics, treatment and prevention.

Keywords

common disease, data management, decision support system, eHealth, genetics, heel prick test, personal genetic locker, pharmacogenetics, primary care, rare disease

Other organisations

4MedBox, Biosemantics, BRCA patient organization), Foundation Digital House of Europe, GGD Regio Leiden, Human Genetics), InHolland University eHealth, Leiden Universitair Medisch Centrum (LUMC), Leiden University (LEI), LIACS, Lynch syndrome society, NMP Workgroup Pharmacogenetics, Patient Organizations (VSOP, PHEG -Public Health en Eerstelijnsgeneeskunde-, Remedi Foundation for Medical Ethical Issues, Rijksinstituut voor Volksgezondheid en Milieu (RIVM), VU Medisch Centrum Amsterdam (VUMC), WeCooperate

Submitter

Organisation Leiden University Medical Center (LUMC)
Name Dr. E.J.F. (Elisa) Houwink
E-mail E.J.F.Houwink@lumc.nl
Website https://nl.linkedin.com/in/isahouwink?challengeId=AQGdKVa9RmJEqQAAAXTa3wr5e_IFLd-GaicteJ8clvCR8F1GXnTW072a97osNrhj_YqfdjmGkdPIZopXse2TGJQnpmjNi6f9Fg&submissionId=05f1f5c7-b550-3916-6659-dbfba13a7369