Molecular
diagnostics enables tailor-made treatments
Molecular diagnostics
has grown by leaps and bounds in the last decade with molecular
diagnostic tools being used to test patient samples for a wide range of
diseases.
In the future, molecular diagnostics is expected to lead the
tailor-made or personalized medical treatments, customized according to
the patients’ genetic make-up and exact characterization of
the disease. Thus molecular diagnostics will play a key role in
boosting the effectiveness of medical therapies and expected to reduce
the adverse drug reactions. This will lead to a modern healthcare
system that is more affordable and efficient.
The field of molecular diagnostic is rapidly growing, particularly in
the US and European biotech hubs. It plays an important role in
detecting and treating diseases. In 2007, the global molecular
diagnostics market was estimated at Rs 13,116 crore and is projected to
grow by 17 percent annually until 2010. The market can be divided into
infectious disease, blood screening, oncology, genetic testing,
companion diagnostics and applied testing. Molecular diagnostics has
paved the way for more efficient drug development. For example, human
papilloma virus (HPV) is a major cause of cervical cancer in women, the
HPV Subtypes like HPV16 and HPV18 account for about 70 percent of all
cervical cancer cases. During the development of a vaccine against HPV
(Gardasil), Merck & Co. used molecular diagnostics to identify
and classify the strains of HPV in women who participated in the
clinical trials of the drug. This allowed the study to more clearly
show the efficacy of Gardasil against the relevant strains of HPV that
are known to cause cervical cancer and the results became an integral
part of the company’s regulatory submission to the Food and
Drug Administration (FDA).
At present, polymerase chain reaction (PCR) based testing predominates;
however, alternative technologies aimed at reducing genome complexity
without PCR are anticipated to gain momentum in the coming years.
Furthermore, development of integrated chip devices (lab-on-a-chip)
should allow point-of-care testing and facilitate genetic readouts from
single cells and molecules. Together with proteomics-based testing,
these advances will improve molecular diagnostic testing and will
present additional challenges for implementing such testing in
healthcare settings.
Focusing on infectious
diseases
Abbott is a global healthcare company focused on discovery,
development, manufacture and marketing of pharmaceuticals and medical
products, including nutritionals, devices and diagnostics. Abbott
Molecular’s instruments and reagents detect pathogens and key
changes in patients’ genes and chromosomes, which permit
earlier diagnosis and selection of appropriate therapies and improved
monitoring of disease progression.
Abbott also offers genomic tests for chromosome changes associated with
congenital disorders and cancer, including the PathVysion HER-2 DNA
Probe kit to identify women with metastatic breast cancer who could
benefit from Herceptin therapy, and UroVysion, which detects genetic
changes in bladder cells for use in monitoring bladder cancer
recurrence and for use as an aid in the initial diagnosis of bladder
cancer in patients with hematuria (blood in urine) suspected of having
bladder cancer. In the infectious diseases segment, there is
the Abbott RealTime HIV-1 assay, an in-vitro reverse
transcription-polymerase chain reaction (RT-PCR) assay for the
quantitation of human immunodeficiency virus type 1 (HIV-1), and the
ViroSeq HIV-1 Genotyping System to detect HIV genomic mutations that
confer resistance to specific types of antiretroviral drugs, as an aid
in monitoring and treating HIV infection. In January 2009, Abbott
introduced a real-time PCR-based diagnostic test for HPV in Europe for
identifying patients infected with specific viral genotypes known to
pose the highest risk for progression of cervical cancer.
In December 2008, Abbott Molecular acquired Ibis Biosciences, a
subsidiary of Isis Pharmaceuticals. The move was to acquire
Ibis’ technological lead in biodefense applications,
microbial forensics and infectious disease detection. The detection and
surveillance of infectious diseases in hospital and clinical setting
are considered as the powerful tools for screening diseases. In 2002,
Abbott formed an alliance with Celera Diagnostics focused on developing
and marketing a broad menu of next-generation molecular diagnostics
products for unmet medical and laboratory needs. Celera delivers
personalized disease management through a combination of products and
services incorporating proprietary discoveries. Celera also
commercializes a wide range of molecular diagnostic products through
Abbott and has licensed other relevant diagnostic technologies
developed to provide personalized disease management for cancer and
liver diseases.
Abbott has also been working on a global surveillance program since
last three decades (early 1970s on hepatitis and mid 1980s on HIV) to
tackle the issue of continuous challenge faced by physicians and
laboratories to overcome the diversification and global redistribution
of groups, subtypes and recombinant strains of such viruses. Abbott has
received a 2007 Chicago Innovation Award for its m2000 molecular
diagnostic instrument and the Abbott RealTime HIV-1 viral load test,
the most sensitive test of its kind capable of detecting and precisely
measuring all known strains of HIV. The test approved for use
in the US since May 2007, and run on the m2000 system, can detect and
measure all group M, group N and group O strains of HIV-1 as well as
non-B subtypes of the virus.
The reason for the high healthcare cost stems from the fact that
majority of laboratory-based conventional testing needs to use more
than one method that lacks precision and involves crude methodology
that indirectly concludes presence or absence of a disease condition.
Even with norms of revalidation in place, patients may erroneously be
treated for a condition that does not exist, pushing the cost for an
ineffective treatment and subsequently corrective procedure, leading to
low quality of life or maybe worse. The molecular diagnostics
technologies are appropriately positioned to address these gaps. The
initial cost of any such product may look high but it turns out to be
significantly cheaper in the long run considering high diagnostic
reliability, speed of diagnosis, quality of life for patient and
swiftness of recovery.
Molecular
diagnostics—a global overview
The infectious
disease testing dominates the molecular diagnostics market. This is due
to the fact that infectious diseases provide a major market opportunity
and it is expected to grow at an average annual rate of 3.69 percent
and reach almost Rs 62,485 crore in 2016.
Pharmacogenetic
testing has the second largest market in the molecular diagnostics
segment. The pharmacogenetic testing is projected to sustain an
explosive average annual growth rate of 184 percent. Such a growth rate
is based on new discoveries in the field of mental health and the
relationship between genetic signatures of neuropsychiatric disorders
and optimal treatment procedures. Pharmacogenetic testing is expected
to generate revenues of Rs 3.06 lakh crore by 2016.
The second fastest
growing molecular diagnostics segment is oncology testing, which
currently represents the smallest market segment in molecular
diagnostics. Oncology testing is projected to grow at an average annual
rate of 68 percent, bringing its size to over Rs 49,381 crore by 2016.
Molecular diagnostics is capable of enhancing the diagnosis and
management of cancer. Development in functional genomic studies is
fueling the growth of molecular diagnostics.
Gene and
chromosome testing is the third-largest molecular diagnostics segment.
At this point in time, genetic tests are conducted as prenatal test for
clinically assessing newborns for various chromosomal abnormalities.
Gene and chromosome testing is expected to grow at an average annual
rate of 11.2 percent and reach Rs 26,757 crore by 2016.
Source:
Report from Kalorama Information (New York), entitled
“Molecular Diagnostics:
Major
World Markets”.
Shalini Gupta