The document discusses the history and progress of medicine and genomics over the past century. It describes how the human genome was sequenced between 2000-2003 and how this sparked the rise of omics technologies and new databases. It also discusses how microarray testing in 2012 revealed two subtypes of diffuse large B cell lymphoma that respond differently to treatments, representing an early achievement of precision medicine. The document advocates that clinical lab scientists help make precision diagnostic tests more widely accessible and efficient to improve health outcomes.

1. As the 21st century dawned, progress was being made in sequencing the entire human
genome; it was completed in 2003. A century before this one, almost 100 years exactly, medical
research was just discovering that mosquitoes were vectors in transmitting diseases; both malaria
and yellow fever used to sporadically cause epidemics in the South. (The Centers for Disease
Control was initially established in the early decades of the 20th century to eradicate malaria in
the South). The Johns Hopkins Hospital was established in the first decades of the 20th century
to understand the influenza virus during the infamous influenza pandemic of 1917. The structure
of DNA was only discovered in 1953. One wonders where we will be in our understanding of
disease 100 years from the publishing of the human genome sequence in 2103.
While the human genome was being sequenced, the NCBI was slowly creating new
databases to deal with the large amounts of data being generated. The human genome project
spawned the –omics revolution. Visit their website now which includes all sorts of other
databases besides nucleotide sequences: snps, miRNA, epigenetics etc.-you name it. I worked at
a genomics company in a blue collar small town in the Boston metropolitan area which worked
on sequencing one or 2 chromosomes for the HGP. It was an exciting time when technologies
exponentially improved in instrumentation and methodologies. I lost count of how many times I
heard that once the human genome project was finished scientists would be able to create better
vaccines and drugs.
In 2012, I began studying for the ASCP molecular biology exam, as I was trying to
switch careers and was encouraged to get that certification. It was exciting to read about the new
technologies developed and used in the clinical laboratory. The most exciting story for me was
the microarray findings by pathologists of 2 different cellular profiles for patients diagnosed with
diffuse large B cell lymphoma. Clinicians knew that there were 2 subgroups of patients that
respond well with 2 different treatment modalities but looking at the tumor tissue
microscopically revealed no differences. Once these 2 pathways were discovered, clinicians
eventually had a test in hand which would genetically identify these 2 subtypes of cancers and
treat patients accordingly. Can you imagine being given the wrong cancer treatment for a year or
more until the physician realized that the drug was not working? What a discovery for medicine
to be able to spare someone untold suffering at such a high cost in terms of both money and
quality of life. Now physicians can use a molecular test to classify patients who have been
diagnosed with diffuse large B cell lymphoma. This is the type of treatment that is now called
by Francis Collins, MD, PhD “precision medicine”.
Precision medicine is personalized medicine but it is circumscribed by other entities like
the FDA and insurance companies which dictate what must be done and whether it shall be paid
for. We are witnessing a work in progress in the literature and the news. The introduction of
Gleevac, a tyrosine kinase inhibitor drug to treat CML reached the clinic in a record 4 months
following a streamlined FDA approval process. Precision medicine in the future will likely
affect clinical trials by carefully selecting the patient populations most likely to benefit, not the
one size fits all approach that ends in a drug not being efficacious in certain patient populations.
The area of clinical medicine that has benefitted most from research and precision
medicine is undoubtedly oncology. Along with the 2 examples I mentioned previously, the test
for CML and DLBCL, other tyrosine kinase inhibitor tests are being validated in hospitals that
have high specificity and that yield information for clinicians to prescribe proper treatments for
just the right patients. Abbott Molecular has on the market FISH probes and kits for detecting

2. certain translocations using break apart probes to identify certain patient populations with
particular genetic anomalies. These newer kinase inhibitors are also showing much promise in
their efficacy in shrinking patient tumors. The lab clinicians must be mindful though of the
limitations of their tests as false negative FISH results may be harder to detect earlier in the
course of the disease despite having high specificities and sensitivities.
Francis Collins, MD, PhD and President Obama have made precision medicine a top
priority. As clinical lab scientists, I think we need to get the conversation started amongst
ourselves in how we can make the process more efficient! We as clinical lab scientists and
patient consumers of healthcare can be instrumental in improving health outcomes, decreasing
hospital costs by getting diagnostic tests on board and ensuring that those tests are
accessible. It’s exciting to see the progress being made and hearing of miraculous cures
happening. Recently, former President Jimmy Carter was cured of melanoma, a very nasty
metastatic fatal cancer. It had entered his brain but is now nowhere to be found. We need more
stories like that!
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