The 10 Most Innovative Digital Healthcare Solution Providers 2018

Molecular
Genetic
Diagnostics:
A Bird’s Eye-View
Genetic testing, especially molecular genetic
diagnostics, has evolved rapidly since the advent
of the twenty-first century, thereby prompting a
corresponding evolution in patient management and the
healthcare industry. Recent advances in molecular biology
research have opened a portal to plenty of phenomenon that
were previously heard of only in science fiction, such as
gene editing, personalized medicine, and even designer
babies. A literal interpretation of the term ‘genetic testing’
would refer to the analysis of changes (known as mutations)
in the hereditary material or DNA (deoxyribonucleic acid)
of an individual or group of individuals to confirm or
predict health-related outcomes. A genome refers to the
complete set of genes that an individual possesses and the
study of this is referred to as genomics. The concepts of
genetic and genomic testing are relatively novel for the
larger population and present multiple challenges for
everyone involved, including the clinician, patient, and
even the scientists developing the tests.
Genetic testing is available in a plethora of flavors, so to
speak, ranging from the genuine, actionable and relevant to
poorly regulated, ambiguous fluff. Accurate molecular
diagnosis can impact patient treatment by comprehensively
identifying the disease condition and providing the clinician
with treatment modalities. In addition, one can also
ascertain if a family member carries a risk of developing the
same condition. Therefore, it is of primary importance to
uphold impeccable laboratory quality standards to minimize
the scope of error.
In an effort to remedy this, a comprehensive team that
includes diverse specialists such as molecular biologists,
medical geneticists, clinicians, bioinformaticians,
histopathologists, and genetic and psychological
counsellors is required to overcome the scientific, technical,
social, and psychological implications of a molecular
genetic test. Their expertise extends to choosing the right
technique and avoiding unnecessary testing with the aim of
minimizing the financial and psychological burden on the
patients.
Countless applications of molecular and cellular biology
have permeated across various fields ranging from
agriculture to healthcare. For example, modern oncology
relies heavily on molecular testing for disease management
decisions. Successive testing for mutations in family
members of the patient has proven to be cost-effective with
long-term benefits. Disease predisposition and prophylactic
measures are based on such genetic evaluations.
The prevalence of conditions such as muscular dystrophy,
dysmorphism, intellectual disability, and disorders of sexual
differentiation are commonly observed in young children.
30 | July 2018 |