Textbook of Personalized Medicine - Second Edition [2015]

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The term ‘phenomics’ is coined to describe, in anticipation, the new fi eld that is
likely to form from the behavioral and other phenotypic analyses designed to obtain
a large amount of information on the varying effects of genetic mutations. This will
integrate multidisciplinary research, with the goal of understanding the complex
phenotypic consequences of genetic mutations at the level of the organism. Hardware
and software engineers, as well as behavioral (and other) neuroscientists will co-
develop test paradigms and equipment that will enable investigators to cope with the
demands set by the increasing number of mutants generated by such techniques as
transgenics or chemical mutagenesis. Phenomics will be a crucial approach in aca-
demic, as well as industrial, research and could lead to a signifi cant paradigm shift
both in the genetic analysis of brain function and in drug development.
The Phenome platform system of DNAPrint Inc will help identify an individual
predisposed to develop cancer before the onset of illness so that lifestyles can be
altered and/or preventative measures taken. It will be used to identify individuals
who are incompatible with certain drug treatments before the drugs are prescribed
and damage is done. It will be used to tease out important genetic determinants
associated with complex genetic diseases, so that drugs can be developed to target
these genes.

Table 4.8 Examples of genotyping and phenotyping in some diseases

Disease Clinical features

Precipitating
factors Phenotyping Genotyping
α1-antitrypsin
defi ciency
(AAT)

Early onset of

emphysema

and liver

failure

Smoking Plasma

α1-antitrypsin

concentration

30 AAT gene
mutations on
chromosome
14q31-32.3
Congenital
adrenal
hyperplasia

An autosomal

recessive

disorder with

several clinical

manifestations

Serum

17-hydroxy-

progesterone

levels

50 mutations of
21-hydroxylase
(CYP21) gene
on
chromosome
6p21.3 near
HLA-B locus
Cystic fi brosis Build-up of thick,
sticky mucus
in the airways

Liver disease and

malabsorption

reduces drug

availability

Sweat chloride

concentration

1,000 mutations
of CFTR gene
on
chromosome
7q31
Glucose-6-
phosphate
dehydrogenase
defi ciency

Growth

retardation,

hypoglycemia,

intravascular

hemolysis

Drugs:

antimalarials,

sulfonamides,

quinidine

Absence of

ultraviolet-

induced

fl uorescence

of

erythrocytes

Point mutations of

G6PD gene on

chromosome

Xq28

© Jain PharmaBiotech

Role of Pharmacogenetics in Pharmaceutical Industry