User:GENETIC WORLD/sandbox

Genes and chromosomes: Our bodies are made up of millions of cells & most cells contain a complete set of genes. We have thousands of genes. Genes act like a set of instructions, controlling our growth and how our bodies work. They are responsible for many of our characteristics, such as our eye colour, blood type, height etc. Genes are carried on thread-like structures called chromosomes. Usually, we have 46 chromosomes in most cells. We inherit our chromosomes from our parents, 23 from our mother and 23 from our father. Because the chromosomes are made up of genes, we therefore inherit two copies of most genes - one copy from each parent. This is the reason we often have similar characteristics to our parents. The chromosomes, and therefore the genes, are made up of a chemical substance called DNA.

Mutations: Sometimes we inherit or develop a change (mutation) in one (or both) copies of a gene, which stops it from working properly. This change can cause a genetic condition because the gene is not giving the correct instructions to the body. There are thousands of different genetic conditions. Some of these conditions occur from birth. Others occur later on in life.

Genetics & Molecular Diagnostics (GMD) is universally acknowledged as the modern face of pathology and more movingly, as the pathology of the future. Applications of GMD is bringing revolution in clinical practice with major implications, opportunities & challenges for the labs. Today the diagnostics is changing from isolated medicine to personalised medicine. “India holds the 5th rank after US, Europe, China and Japan in global molecular diagnostics market”. Advantages of GMD are High sensitivity, High Specificity, Accurate & Reliable, Fast turnaround time & Cost-effective. There is an urgent need for awareness and education regarding the use and interpretation of these advanced molecular tests. The major applications are

PREDICTIVE GENETIC TEST: A predictive test can provide information about whether or not a person has inherited genes or have changed genes that will develop or is likely to develop a specific condition or disease, usually at a later stage in life. The test is usually performed on a blood sample or saliva or tissues.

Advantages of Predictive Genetic Testing: • Predictive genetic testing has considerable potential for accurate risk assessment and appropriate targeting of screening and preventive strategies. • Tests are useful if an individual has a family member with a genetic disorder, as the results may indicate if there is an increased risk of them developing the same condition. • Presymptomatic testing can provide the opportunity to identify a disease at an early stage and start a therapy or take preventive measures. A stressful situation can be relieved when it is possible to exclude an assumed higher risk of disease which, for instance, was derived from a family history. The results can be useful for making decisions about treatment and enable people to gain a better understanding of the condition. There are many conditions & diseases which when predicted early can be handled well. Patients can have a proper control on its progression through lifestyle changes or regular diagnosis to detect it soon and treat it to minimize the complications or pain like GENETIC RISK FOR CERTAIN DISEASE: Asthma, CKD, Diabetes, Hypertension, Psoriasis, RA etc. GENETIC RISK FACTOR FOR DEVELOPING CANCER: Basal cell carcinoma, Breast, Ovarian, Endometrial, Colorectal, Lung, Melanoma, Prostate, Thyroid etc. METABOLIC DISEASE: Alcohol, Caffeine, Vitamins, Iron, Carbohydrate, Lactose, Fats etc. SPORTS & RECREATION: BMD, Muscle, Biological ageing etc. GENETICALLY DETERMINED CONDITIONS: Alcohol / Nicotine addiction, Migraine, Schizophrenia etc.

BIRTH DEFECTS: 1 in every 33 babies born each year.

IVF – PGD: GMD is being used increasingly at IVF centres to dramatically improve the chance of a successful pregnancy.

PHARMACOGENETICS: A "one-size-fits-all" approach to medicine might lead to some of these side effects, since all people are different. Genetic research is helping us figure out how individual people will respond to medicines. Pharmacogenomics may help to save time and money. Drs soon will be able to avoid trial-and-error approach, until they find the right one.

INFECTIOUS DISEASE (HIV, Hepatitis-B, Hepatitis-C etc): Conventional method are less sensitive & pose a threat to Drs & Staff. GMD is highly sensitive and prevent false negative reports.