This presentation is a review of the progress of laboratory medicine through history

2. From Imhotep to the-omics era :
the Fascinating History of
Laboratory Medicine
Ekbal Mohamed Abo-Hashem . MD
Prof. of Clinical Pathology
Mansoura University

3. Outlines :
• Introduction
• The first lab. test: Uroscopy…started from the ancient world
,and is still of clinical significance .
• Development and advancement of laboratory techniques in
haematology, microbiology, clinical chemistry, immunology
and blood transfusion .
• Medical genetics: from pre-Mendalian and Mendalian era to
modern genetics .
• Laying the foundation for sequencing of the human genome .
• The – Omic’s platform and personalized medicine .
• The future laboratory .

5. Introduction
• Medical diagnostics plays a significant role in
clinical decisions.
• The first medical laboratory test to be developed
was urine analysis, in which urine properties were
analysed for diagnosis.
• Urine analysis has been long used as a routine
laboratory test that was improved with the
development of sampling and test methods.
• As the field of haematology progressed with the
invention of the microscope, blood tests were
developed.

6. • Demands for tests based on clinical
chemistry have existed since the 17th
century, and research using patient
blood began in the 18th century.
• In the 20th century, with the
development of the spectrophotometer,
chemical analyses were performed for
diagnostic purposes.

7. • With the appearance of cholera outbreaks, the
identification of microorganisms was
necessary for patient diagnosis, and the
development of specific test methods
contributed to microorganism detection in the
laboratory.
• Blood transfusion, which started with blood
collection in the 15th century, is currently used
as a therapeutic method in medicine.

8. • Moreover, once the hypothesis of acquired
immunity was proven in the 18th century , it
was followed by various methods for
measuring immunity.
• Molecular diagnosis, which was established
during the 20th century after the presentation of
Mendel’s Genetic Laws in the 19th century,
developed rapidly and became a predominant
field in medical laboratory diagnostics.

9. • Thus, medical laboratory technology became an
academic field, with foundations based on basic
sciences.
• Modern medicine will further progress, thanks to
medical advancements, leading to an extension of
average human lifespan up to 100 years.
• Laboratory medicine will surely provide
significant support for this development.

10. • It is a most fascinating history , for it
mirrored that of the history of
medicine itself..

11. • Laboratory medicine began 6000 years ago with the
analysis of human urine, which was called uroscopy
until the 17th century and today is termed urinalysis.
• Today physicians use urine to diagnose selective
conditions but from ancient times until the Victorian
era, urine was used as the primary diagnostic tool.
• Physicians spoke of urine as a ‘divine fluid’, or a
window to the body.
• Babylonian and Egyptian physicians and many of the
earliest civilizations began the art of uroscopy and a
few of their clay tablets have been found that give us
some insight into their observations and conclusions.

12. • The wheat and barley test was the first home
pregnancy test.
• Doctors diagnosed pregnancy and disease by
examining urine.
• Those doctors would look at the color of urine to
determine pregnancy or sometimes they would mix
it with wine to see if there was a reaction.
• Another common test was soaking a ribbon in the
woman’s urine then burning it; if the smell made
the woman gag, she was with child.
• Wheat test itself was extremely long lasting. the
test appears in a book of German folklore as late as
1699, and according to one source, was still in
practice in Asia Minor in the 1960s.

13. • “Many of the ideas in the medical texts from
Ancient Egypt appear again in later Greek and
Roman texts. From here, they spread further
to the medieval medical texts in the Middle
East, and traces can be found all the way up
to pre-modern medicine, the Egyptian ideas
have left traces thousands of years later.”

14. • In the first known pregnancy tests ,nearly 3500
years ago, Ancient Egyptian Women urinated on
barley or wheat seeds: quickly sprouting seeds
indicated pregnancy.The bag that sprouts first will
reveal the pregnancy—barley for boys, wheat for
girls .
• Several modern studies have shown that it works
pretty well, Correctly identifying 70-85% of
pregnancies.
• The ancient Egyptians were certainly onto
something, as modern pregnancy tests work in
much the same way: they detect a hormone in
urine.

18. Egyptian knowledge of haematuria
and schistosomiasis
• Schistosomiasis was first recorded in the oldest
papyrus , Kahun (1900 BCE).
• It was named a˜-a-a˜ disease, the hieroglyphic
script of which is presented as a phallus symbol
which was used to represent any fluid emitted from
the penis , and in this case it may refer to
haematuria .
• The disease was mentioned 50 times in various
papyri , indicating that it was endemic .

20. • IN THE ANCIENT WORLD Although Hippocrates is
credited with being the original uroscopist, urine
diagnosis is believed to pre-date Hippocrates.
• Sumerian and Babylonian physicians of 4000 BC
recorded their assessment of urine on clay tablets.
• Ancient Sumer, one of the earliest civilizations,
recognized that urine characteristics were altered with
different diseases. Sanskrit medical works from 100 BC
describe 20 different types of urine.
• Hindu cultures were aware that some people’s urine
tasted sweet, and that black ants were attracted to this
sweet urine, a characteristic of the disease now known
as diabetes mellitus.

21. • Hippocrates related the appearance of
bubbles on the surface of urine specimens
to kidney disease and chronic illness.
• He also related certain urine sediments and
blood and pus in urine to disease.
• A description of hematuria, or the presence
of blood in urine, was shown by Rufus of
Ephesus surfaced at around AD 50 and was
attributed to the failure of kidneys to
function properly in filtering the blood.

22. • Abu Baker Muhammad ibn Zakariya Razi
(Rhazes or Rasis, 865 AD-925 AD) and Abu
Ali al-Husayn ibn Abd Allah ibn Sina
(Avicenna 980 to 1037 AD) were amongst a
few scientists who pioneered in performing
urinalysis in scientific methods very similar
to what is customary in the 21 century,
except they did not have access to
microscopes to examine for the presence of
different cells or crystals.

23. • These scientists were not only examining
the urine for the detection and diagnosis of
renal diseases, but in their interpretation
they would also judge the function of other
organs and their relation to the quality of
urine.

25. • In volume 1 pages 312-342 Poore Sina has a chapter
describing urinalysis in scientific manner from the very
beginning, step by step.
• He suggested, the urine for examination must be the
first voided urine in the morning.
• The patient should not eat or drink from the night prior
to examination .
• Not to take any food or drug that can change the color
of urine such as beetroot or saffron etc.
• Even external use of some coloring material like henna
can change the color of urine.

26. •Urine should be used for examination if the
patients has diarrhea or vomiting.
•Exhaustion, insomnia and fasting are other
conditions that must be avoided.
• Urine should be examined as soon as possible
after voiding and after six hours it is not useful
for examination.
• Avicenna insisted that urine should be examined
in the first hour post voiding.
• If urine used for examination later the color
would change and the foam if present will
disappear.

27. • The proper method of examination of urine:
Urine should be voided in a spacious urinal with a wide
opening. The examiner should wait enough time for the
urine tranquility.
The urinal should be kept in a place away from wind,
sunshine and not to be too cold or hot.
The urinal should be washed clean.
It is known that the first urine gives information about
the condition of urinary tract, liver and vessels, and
can be used to diagnose systemic diseases.

29. Ibn Sina considered seven aspects of
urine:
1-Color
2-Texture and consistency
(Concentration and Dilution)
3-Clarity (Brightness and turbidity)
4-Sediment (Dregs, Tartar or Deposit)
5-Volume
6-Odor (Smell)
7-Foam or froth

31. Middle Ages
• In medieval Europe, diagnosis by “water casting”
(uroscopy) was practiced, and the urine flask
became the emblem of medieval medicine.
• By AD 900, Isaac Judaeus, a Jewish physician and
philosopher, had devised guidelines for the use of
urine as a diagnostic aid; and under the Jerusalem
Code of 1090, failure to examine the urine exposed a
physician to public beatings.

32. • Patients carried their urine to physicians in
decorative flasks cradled in wicker baskets and,
because urine could be shipped, diagnosis at long
distance was common.
• The first book detailing the color, density, quality
and sediment found in urine was written around
this time, as well.
• By around AD 1300, uroscopy became so
widespread that it was at the point of near
universality in European medicine .

33. • During the renaissance, uroscopy entered the household
through the best selling book Fasiculus Medicinae,
published in 1491 by Johannes de Ketham from Germany.
• De Ketham explained current theories and included a self-
diagnostic color wheel, with which individuals could self-
diagnose their condition, based on colour and
consistency.
• This book became exceedingly popular.
• Some authors have compared it to the Merck Manual
(which is sold in consumer bookstores and arguably used
more by consumers than physicians).
THE RENAISSANCE (1450–1600)

37. • Uroscopy was commonplace, and it shows up
in Shakespeare's writings.
• In Henry IV, when Falstaff asks "What says the
doctor to my water?" He's not just asking
about his urinary health; because urine was so
central to medicine at that time, he was
effectively asking for the results of his entire
check-up.

38. • The gravimetric analysis of urine was
introduced by the Belgian mystic, Jean Baptiste
van Helmont (1577–1644)..
• It was not until the late 17th century—when
Frederik Dekkers of Leiden, Netherlands,
observed in 1694 that urine that contained
protein would form a precipitate when boiled
with acetic acid—that urinalysis became more
scientific and more valuable.

39. • Microscopic examination of urine developed during
the 19th and 20th centuries, and in 1933, R.F. Pitts
developed urine markers to determine how the kidney
functions.
• The best qualitative analysis of urine at the time was
pioneered by Thomas Willi (1621–1675), an English
physician and proponent of chemistry.
• He was the first to notice the characteristic sweet taste
of diabetic urine, which established the principle for
the differential diagnosis of diabetes mellitus and
diabetes insipidus.

40. • Experiments with blood transfusion were also
getting underway with the help of Richard Lower
(1631–1691) , who was the first to perform direct
transfusion of blood from one animal to another.
• Other medical innovations of the time included
the intravenous injection of drugs, transfusion of
blood, and the first attempts to use pulse rate and
temperature as indicators of health status .

41. Seventeenth century
• The invention of the microscope opened the door to
the invisible world just as Galileo’s telescope had
revealed a vast astronomy.
• The earliest microscopist was a Jesuit priest,
Athanasius Kircher (1602–1680) of Fulda (Germany),
who was probably the first to use the microscope to
investigate the causes of disease.
• His experiments showed how maggots and other living
creatures developed in decaying matter .

42. • Kircher’s writings included an observation that the
blood of patients with the plague contained “worms;”
however, what he thought to be organisms were
probably pus cells and red blood corpuscles because
he could not have observed Bacillus pestis with a 32-
power microscope.
• Robert Hooke (1635–1703) later used the microscope
to document the existence of “little boxes,” or cells, in
vegetables and inspired the works of later histologists
.

43. 18-th century
• Additional advances in urinalysis occurred with J.W.
Tichy’s observations of sediments in the urine of
febrile patients (1774); Matthew Dobson’s proof that
the sweetness of the urine and blood serum in
diabetes is caused by sugar (1776); and the
development of the yeast test for sugar in diabetic
urine by Francis Home (1780).

44. This century has also seen remarkable advances in
the field of urinalysis: dipstick testing, the application
of modern chemical and microscopic techniques to
constituent analysis, automation, and most recently,
monoclonal antibody and recombinant gene
technology to enhance and improve urine
examination.
•During the past few decades, urine is viewed as a
convenient source for biomarkers that might provide
insights to human health.

45. • Investigators have used sophisticated methods such as
mass spectrometry to identify and catalog concentrations
of exosomes, cells, proteins, and other small molecules in
urine to identify constituents that might predict or indicate
the presence of diseases such as urinary incontinence
(UI), overactive bladder, interstitial cystitis/bladder pain
syndrome (IC/BPS), and UTI .
In short, urinalysis, the first of all laboratory tests,
began as and still remains a most valuable and
highly important means of diagnosis in clinical
medicine.

46. • One notable event that is a forerunner to the modern
practice of laboratory measurement of prothrombin
time, plasma thromboplastin time and other
coagulation tests, was the discovery of the cause of
coagulation.
• An English physiologist, William Hewson (1739–
1774) , showed that when the coagulation of the
blood is delayed, a coagulable plasma can be
separated from the corpuscles and skimmed off the
surface.

47. • Hewson found that plasma contains an insoluble
substance that can be precipitated and removed from
plasma at a temperature slightly higher than 50°C.
• Hewson deduced that coagulation was the formation in
the plasma of a substance he called “coagulable lymph,”
which is now known as fibrinogen.
• A later discovery that fibrinogen is a plasma protein and
that in coagulation it is converted into fibrin attests to the
importance of Hewson’s work.

49. • The first clinical laboratory was established in
1869 at Johns Hopkins hospital (Baltimore) .
• American Society for Clinical Pathology (ASCP)
was established in 1922-previously named
American Society for Clinical Pathologists .
• ASCP Board of Registry was established in
1928 to certify clinical laboratory personnel .

53. History of Medical Genetics

54. Pre-Mendalian and Mendalian Genetics
• Early work in the cultivation of plants and the
domestication of animals provides evidence that humans
were interested in the inherited aspects of phenotypes
and the manipulation of parent-parent pairings to improve
future generations.
• After the dioecious nature of the date palm was noted in
5000 BC, the ancient Babylonians and Assyrians
practiced artificial pollination from the time of King
Hammurabi in 2000 BC.

55. • Greek philosophers Hippocrates, Aristotle, and Plato
(from 460 to 322 BC ) wrote about the inheritance of
human traits.
• They observed that certain traits were frequently (ie,
in a dominant fashion) passed from parent to child.
• These early Greek philosophers believed that semen
was in some way responsible for passing on traits
,although they did not understand the exact
contribution by the male or female parent to the
offspring.

56. MODERN GENETICS
• In 1814, Joseph Adams recognized the difference between
autosomal recessive and autosomal dominant conditions
(although he did not use this terminology).
• He also recognized that :
 It was not favourable to mate with one’s relatives,
 That hereditary diseases can express later in life,
 That some hereditary diseases require an environmental
exposure to be expressed,
 That there was some intrafamilial correlation of diseases,
 And that the reproductive fitness of individuals with
hereditary disease was diminished.

57. • In 1859, Darwin published On the Origin of Species, proposing
evolution by natural selection, but the principles of genetics to
defend his theory were not widely known at that time.
• In 1865, Mendel published “Experiments in Plant Hybridization,”
proposing the principles of heredity and introducing the concept of
dominant and recessive genes to explain how a characteristic can be
repressed in 1 generation but appear in the next generation.
• Today, he is widely considered the founding father of modern
genetics because of his extensive experiments validating the basic
tenets of genetics. Moreover, Mendel’s work eventually helped to
partially explain Darwin’s concept of evolution.

58. • In 1869, Miescher studied extracts of cellular nucleic acid and
coined the term nuclein. This was the material basis of
heredity, but another 80 years passed before nuclein was
shown to be DNA.
• Between 1879 and 1882, Flemming used “new staining
techniques” to see “tiny threads” within the nucleus of cells in
salamander larvae that appeared to be dividing. In so doing, he
discovered chromosomes that he named chromatin because of
this material’s affinity for taking up stain.
• Shortly thereafter, in 1889, Weismann published the first of a
series of papers in which he theorized that the material basis of
heredity was located on the chromosomes.

59. • Inherited biochemical disorders were first described
in 1902 by Garrod in his landmark article, “The
Incidence of Alkaptonuria: A Study in Chemical
Individuality.”
• He described alkaptonuria and several additional
disorders in his book Inborn Errors of Metabolism.
• Because of this work, Garrod is now
considered the founder of biochemical
genetics.

60. • In 1929, Richard Schönheimer studied a patient
with hepatomegaly due to massive glycogen
storage and suggested that this disorder may be
due to an enzyme deficiency. It was not until 1952
that Cori and Cori found glucose-6-phosphatase to
be deficient in patients with von Gierke disease
(glycogen storage disease type I). This observation
was the first time that an inborn error of
metabolism was attributed to a specific enzyme
deficiency.

61. • In 1910, Morgan conducted experiments in fruit flies,
mainly Drosophila melanogaster, and established that
some genetically determined traits were sex linked.
• In 1913, Bridges,, established that genes were located
on chromosomes. In that same year, Sturtevant,
determined that genes were arranged on
chromosomes in a linear fashion, like beads on a
necklace. Moreover, Sturtevant showed that the gene
for any specific trait was in a fixed location or locus.
•

62. • Muller, in 1926 discovered methods for artificially
producing mutants in fruit flies by ionizing radiation and
other mutagens. In so doing, he discovered the origin of
new genes by mutations .
• In 1928, Griffith studied Streptococcus pneumoniae
and learned that a “transforming principle” can be
transferred from dead virulent bacteria to living
nonvirulent bacteria. Many investigators at that time
believed that the transforming principle was protein.

63. • In 1941, Beadle and Tatum suggested that “one gene
codes for one enzyme.”
• In 1944, the work of Griffith was continued by Avery et
al , who showed that the transforming principle was
DNA, and thus DNA was the hereditary material in most
living cells.
• Pauling et al ,in 1946 revealed that the specific
physicochemical changes in the sickled cells were a
result of the mutated gene. Their publication is
considered the first description of a disease on a
molecular basis.

64. • In 1934, Fölling , was the first to ascribe a form of
mental retardation to a metabolic disturbance. In this
disorder, now known as phenylketonuria, the clinical
characteristics are caused by an elevated excretion of
phenylpyruvic acid in urine as a result of a deficiency in
phenylalanine hydroxylase, which in turn is a result of a
mutation of the gene encoding for the enzyme.
• The development of a treatment strategy for
phenylketonuria in the early 1950s by the provision of a
diet low in phenylalanine is another milestone in the
history of biochemical genetics.

65. • Because of the potential to prevent mental
retardation in affected infants, Guthrie and
Susi developed a cost-effective screening
method for phenylketonuria, using small
blood spots dried on filter paper that were
collected from newborns. Population-wide
newborn screening for phenylketonuria
began in the 1960s.
•

66. • As a result of important technological
advances, more than 1000 inborn errors of
metabolism are now recognized. The
application of tandem mass spectrometry to
newborn screening has allowed the
expansion of the number of metabolic
disorders detectable in a single dried blood
spot to more than 30.

67. Molecular Biology

68. Molecular Biology Timeline
• 1896 : DNA discovered by F.Meischer.
• 1910 : Genes on chromosomes ,T.H.Morgan.
• 1941 : One gene-one enzyme,Beadle&Tatum.
• 1944 :DNA is the genetic material,Avery,Mcleod&McCarty.
• 1953 : Structure of DNA,Watson,Crick,Fraklin,Wilkins.
• 1961 : Discovery of mRNA.Brenner.Jacob&Meselson.
• 1966 : Finished unravelling the code,Nirenberg&Khorana.
• 1972 : RecombinantDNA Made in vitro,P.Berg
• 1973 : DNA cloned on plasmid.H.Boyer&S.Cohen
• 1973 : Discovery of reverse transcriptase,H.Temin
• 1977 : Rapid DNA sequencing .F.Sanger&W.Gilbert
• 1977 : Discovery of split genes,Sharp,Roberts et al
• 1982 : Discovery of ribozymes,T,Cech&S.Altman
• 1986 : Creation of PCR,K.Mollis et al
• 2001 : Human Genome Project,Venter,Collins ,and many others.

69. • In 1950, Chargaff discovered that the ratio of the nucleic acid bases,
purines to pyrimidines (adenine to thymine, guanine to cytosine)
was always 1:1. This observation provided strong evidence that the
nucleic acid bases form complementary pairs within the DNA
molecule.
• In 1951, Franklin, Wilkins, and associates produced x-ray diffraction
patterns of the DNA molecule. This work revealed the helical
structure and location of the phosphate sugar on DNA.
• In 1952 Hershey and Chase produced conclusive evidence that
bacteriophage DNA contained all the information necessary to
create a new virus particle, including its DNA and protein coat.

70. • In 1953, Watson and Crick elucidated the structure of the
DNA molecule to be a double helix. Subsequently, Crick
introduced the central dogma of genetics, ie, DNA makes
RNA makes protein.
• In the early 1950s, several technical advances in
chromosome methodology were discovered, including the
discovery by Hsu of hypotonic solutions to spread the
chromosomes.
• Armed with these new methods, Tijo and Levan , in 1956
established the correct chromosome number in humans to
be 46.

71. • In 1959, 3 important chromosome syndromes were discovered.
In France, Lejeune et al , described trisomy 21 in Down
syndrome. Working in England, Jacobs and Ford identified
45,X in Turner syndrome and 47,XXY in Klinefelter syndrome.
Collectively, these observations marked the birth of clinical
cytogenetics.
• In 1960, Nowell and Hungerford in Philadelphia discovered that
an abnormality of chromosome 22 (the Philadelphia
chromosome) was associated with chronic myeloid leukemia.
• This discovery led to the birth of cancer cytogenetics.

72. • In the 1960s and 1970s, important discoveries led to modern
techniques in the study of genetics. Temin and Mizutani and
Baltimore independently discovered,the enzyme that uses RNA
as a template for threverse transcriptase e synthesis of a
complementary DNA strand.
• In the early 1970s, a variety of cytogenetic methods were
discovered that produced distinct bands on each chromosome.
Caspersson et al developed a banding method that used
quinacrine mustard, which allowed accurate identification of all
22 autosomes and the X and Y chromosomes.

73. • Thus, recognition of extremely subtle
structural abnormalities and specific
identification of the chromosomes involved
in aneuploid situations became possible.

74. • In 1975, Southern developed a method to isolate and
analyze fragments of DNA. Today, this method is
referred to as Southern blot analysis and is commonly
used in genetic studies in research and clinical
practice.
• In 1977, Sanger et al and Maxam and Gilbert
independently developed techniques to determine the
nucleic acid bases for long sections of DNA. One year
later, Kan and Dozy discovered restriction fragment
length polymorphisms.

75. • In 1980, Bauman et al attached fluorophores to
specific DNA bases to perform in situ hybridization
and visualized individual chromosome loci.
• Between 1986 and 1988, Pinkel et al , used this
method with chromosome-specific DNA sequences
to detect trisomy 21 and translocations involving
chromosome 4.
• In 1983, Mullis et al,, invented the polymerase chain
reaction. This method amplified small fragments of
DNA to make sufficient quantities available for DNA
sequence analysis.

76. • Using these new genetic techniques, several genes for
important human disorders were discovered in the 1980s
,e.g Huntington chorea ,neurofibromatosis type 1 ,
Duchenne muscular dystrophy ,and cystic fibrosis.
• In 1991, King found the first evidence that a gene on
chromosome 17 could potentially be associated with an
inherited predisposition to breast cancer and ovarian
cancer.
• Collectively, the work of these
investigators between 1980 and 1991 lead
to the birth of modern clinical molecular
genetics.

77. • In 1991, a system of chromosome nomenclature
based on chromosome bands led to a systematic
procedure for identifying each of these
chromosome bands. For example, Xq13 indicated a
band on the X chromosome, q arm, region 1, band 3.
This created a language of communication for gene
and chromosome locations that is currently in use
throughout the world.
• Today, cytogenetic studies are applied in 3 broad
areas of medicine: (1) congenital disorders, (2)
prenatal diagnosis, and (3) neoplastic disorders,
especially hematologic disorders.

78. •Today, cytogenetic studies are applied in 3
broad areas of medicine:
• (1) congenital disorders,
•(2) prenatal diagnosis, and
• (3) neoplastic disorders, especially
hematologic disorders.

79. Laying The Foundation For The Sequencing Of
The Human Genome

80. • Genome is derived from parts of 2 other important
words: gene and chromosome.
• With advances in genetic research, a genome is defined
to be composed of a series of nitrogenous DNA bases
(adenine [A], guanine [G], thymine [T], or cytosine [C]).
• In each organism, these bases are arranged in a
specific order, and this order is the genetic code of the
organism.

81. •The international effort to sequence the
human genome was initiated in 1990 and
was named the Human Genome Project
(HGP).
•The HGP originally developed a 15-year
plan to map and sequence the human
genome.

82. • The plan outlined several goals including :
 Development of high-resolution genetic and physical maps of the
human genome;
 Determination of the complete DNA sequence of humans and
several other model organisms;
 Development of the capability for storing, analyzing, and
interpreting these data (now called bioinformatics); and
 Development of the technology necessary to meet these goals, as
well as assessment of the ethical, legal, and social implications of
genomics.
 Objectives relating to research training and technology transfer
were also elaborated at that time.

83. • Genome is made up of approximately 3 billion
such bases.
• In 2001, a first draft sequence of the entire
human genome was completed and made
available to the public for study and research.

84. When the Human Genome Project is finished,
many of the innovative laboratory methods
involved in its successful conclusion will begin to
fade from memory. What will remain, as the
project's enduring contribution, is a vast
amount of computerized knowledge. Seen in this
light, the Human GenomeProject is nothing but
the effort to create the most important database
ever ttempted—the database containing
instructions for creating life.

85. Now that the DNA sequence is largely complete, there
is interest in trying to understand not only the function
of genes (genomics) but also the function of proteins
(proteomics) and how groups of proteins in common
pathways combine to produce physiological responses
(metabolomics). These efforts are already under way
and will lead to insights about cell physiology .

86. The -omics platform
Over the past decade, improvements in instrument sensitivity,
speed, accuracy, and throughput, coupled with the development of
technologies such as :
• Multiple reaction monitoring (MRM),
• Stable Isotope Standard Capture with Anti-Peptide Antibodies,
Sequential Window Acquisition of all Theoretical Mass Spectra,
• Cross-linking mass spectrometry,
• Imaging mass spectrometry,
• Imaging flow cytometry, and
• Middle/top down proteomics,
have led to significant advances in the field of proteomics .

88. • The emergence of the ‘omics’ platforms (genomics,
proteomics, metabolomics, transcriptomics, and
interactomics) now gives us a pipeline around
which to develop the infrastructure required for
personalized (precision, P4) medicine.
Personalized medicine
This concept has been coined to represent future medical practice as :
Predictive, Preventive, Personalized and
Participatory
Shaping the future of laboratory medicine

89. • A multidisciplinary systems biology
approach is required, combining the
concerted effort of specialists from a wide
variety of disciplines (e.g. medicine,
chemistry, biochemistry, physics,
mathematics, computing, bioinformatics,
and manufacturing), to bring together the
multiple skills and technologies required .

90. • Personalized medicine involves specifically tailoring
treatment to the individual characteristics of the patient
rather than the current approach of stratifying patients
into treatment groups based on phenotype.
• It will address both health and disease and impact on
predisposition, screening, diagnosis, prognosis,
pharmacogenomics, and surveillance , based on a
comprehensive understanding of an individual’s own
biology.
•

91. • Personalized medicine is predicted to
significantly reduce global health budgets, both
by reducing the need for hospitalization and
associated costly procedures, and by
minimizing the unnecessary/inappropriate use
of drugs.
•Importantly the patient will be able to define
his own normal levels, facilitating the correct
interpretation of biomarker assays.

92. • The greater integration of metabalogenomics, proteomics
and peptidomics will allow clinicians to further stratify
treatment responses in certain disease conditions.
• The integration of basic sciences and clinical diagnostic
molecular pathology will further achieve academic
advancement for the discipline of laboratory medicine.
• Molecular pathology will be highly reliant on the devices
section of laboratories, particularly in the area of
microsystems (lab-on-chip devices, microfluidics,
nanotechnology, etc.).

93. THE FUTURE OF LABORATORY MEDICINE
STILL HOLDS A LOT….ARE WE READY ??

94. Thank you