Renske de Veer (rdeveer)
Summary Personalized healthcare: overview.
HC 1: Introduction to Personalized Healthcare Research
Personalized healthcare: match diagnostics and therapies to the specific characteristics and needs of
a patient.
Personalized medicine: is an emerging practice of medicine that uses an individual’s genetic profile to
guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
- The ability to offer the right drug, to the right patient, for the right disease, at the right time,
with the right dosage, enhanced by new biological knowledge.
- Genomic/genetic testing & proteomic profiling
Traditional medicine is based on: Family history, socio-economic circumstance & environmental
factors.
New paradigm:
- Results in more efficient medical care, because the correct drug is chosen earlier in the
treatment of the disease
- Future paradigm: aim to prevent disease.
, Renske de Veer (rdeveer)
HC 2: Molecular innovations and future directions
- Great advances in technology: not about how you will do it but what you will do (?)
o Exponential technology development
Consider individual differences in life science research → people are different and we can
molecularly phenotype them.
Personalized medicine: translation to personalized healthcare is the problem.
- Health care medicine
- Precision medicine/targeted medicine
The right drug for right patient at right dose at right time = precision medicine or targeted medicine.
More broadly ‘personalized healthcare’, may be thought of as the tailoring of medical treatment to
the individual characteristics, needs, and preferences of a patients during all stages of care, including
prevention, diagnosis, treatment and follow-up.
Now drug not toxic and beneficial
B-RAFv600E cells always grow and become cancer cells. Raf inhibitors will block pathways, block cell
growth and inhibit cancers that have a B-RAFv600E mutation. 60% of melanoma patients have B-
RAFv600E mutation (gets via 2 phosphorlation). If you can screen the tumour for the mutation, then
you will have the basis for personalized healthcare!
Zelboraf is a B-RAF inhibitor.
Oncogenic addiction: whole cell focusses on one production (growth/proliferation)
(Kinase inhibitor: very insoluble → couldn’t make it soluble. Needs to be soluble to work.)
➔ Personalized medicine is risky (need lots of experts → cannot know everything on your own),
but profitable business.
- Exome sequencing: sequencing exome regions (active regions of DNA; not introns).
Environment has big impact on molecular scale.
20 RNA’s per gene (21.000 genes) → 2.000.000 different protein forms.
- Glycosylation (sugar; glycan); happens to 80% of all proteins to be stable & to execute its
function.
➔ Role of molecular biomarkers in personalized healthcare = Personalized diagnosis,
personalized therapy, and personalized participation.
Precision medicine in genetic-metabolic disease; via genomic or metabolomics → new disease
mechanisms → personalized therapies.
- Role of molecular biomarkers: DNA, RNA, proteins, metabolites → X-omics → therapy
monitoring.
The future is more omic platforms (million data points), artificial intelligence, system biology → new
personalized therapies!
Future; stop looking at small parts, you would like to see the whole skeletal, instead of just a portion
of DNA you will see the whole stretch, long read
OMICS: you can go into metabolites, but also proteins
Summary Personalized healthcare: overview.
HC 1: Introduction to Personalized Healthcare Research
Personalized healthcare: match diagnostics and therapies to the specific characteristics and needs of
a patient.
Personalized medicine: is an emerging practice of medicine that uses an individual’s genetic profile to
guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
- The ability to offer the right drug, to the right patient, for the right disease, at the right time,
with the right dosage, enhanced by new biological knowledge.
- Genomic/genetic testing & proteomic profiling
Traditional medicine is based on: Family history, socio-economic circumstance & environmental
factors.
New paradigm:
- Results in more efficient medical care, because the correct drug is chosen earlier in the
treatment of the disease
- Future paradigm: aim to prevent disease.
, Renske de Veer (rdeveer)
HC 2: Molecular innovations and future directions
- Great advances in technology: not about how you will do it but what you will do (?)
o Exponential technology development
Consider individual differences in life science research → people are different and we can
molecularly phenotype them.
Personalized medicine: translation to personalized healthcare is the problem.
- Health care medicine
- Precision medicine/targeted medicine
The right drug for right patient at right dose at right time = precision medicine or targeted medicine.
More broadly ‘personalized healthcare’, may be thought of as the tailoring of medical treatment to
the individual characteristics, needs, and preferences of a patients during all stages of care, including
prevention, diagnosis, treatment and follow-up.
Now drug not toxic and beneficial
B-RAFv600E cells always grow and become cancer cells. Raf inhibitors will block pathways, block cell
growth and inhibit cancers that have a B-RAFv600E mutation. 60% of melanoma patients have B-
RAFv600E mutation (gets via 2 phosphorlation). If you can screen the tumour for the mutation, then
you will have the basis for personalized healthcare!
Zelboraf is a B-RAF inhibitor.
Oncogenic addiction: whole cell focusses on one production (growth/proliferation)
(Kinase inhibitor: very insoluble → couldn’t make it soluble. Needs to be soluble to work.)
➔ Personalized medicine is risky (need lots of experts → cannot know everything on your own),
but profitable business.
- Exome sequencing: sequencing exome regions (active regions of DNA; not introns).
Environment has big impact on molecular scale.
20 RNA’s per gene (21.000 genes) → 2.000.000 different protein forms.
- Glycosylation (sugar; glycan); happens to 80% of all proteins to be stable & to execute its
function.
➔ Role of molecular biomarkers in personalized healthcare = Personalized diagnosis,
personalized therapy, and personalized participation.
Precision medicine in genetic-metabolic disease; via genomic or metabolomics → new disease
mechanisms → personalized therapies.
- Role of molecular biomarkers: DNA, RNA, proteins, metabolites → X-omics → therapy
monitoring.
The future is more omic platforms (million data points), artificial intelligence, system biology → new
personalized therapies!
Future; stop looking at small parts, you would like to see the whole skeletal, instead of just a portion
of DNA you will see the whole stretch, long read
OMICS: you can go into metabolites, but also proteins
