Genetics and Molecular Medicine

Genetic testing has a very important role to play in determining the risk of developing certain types of diseases as well as screening and medical treatment. Different forms of genetic tests are performed for different reasons:

• Diagnostic testing
  If you experience symptoms of a disease that may have resulted from genetic changes, sometimes known as mutated genes, genetic testing can help determine whether or not you have the suspected disease. For example, genetic testing may be employed to establish a diagnosis of Huntington’s disease or cystic fibrosis.
• Presymptomatic and predictive testing
  If you have a family history of a genetic disorder, getting genetic testing done before you are symptomatic may reveal whether or not you are at an increased risk of developing that condition. For example, these kind of tests may be used to identify your risk of developing some types of colorectal cancer.
• Carrier testing
  If you have a family history of genetic disorders like cystic fibrosis or sickle cell anaemia or you belong from an ethnic group that carries a high risk of a certain genetic disorder, you can have genetic testing done before thinking of conception. An expanded carrier screening test can be used to detect genes linked with a diverse range of genetic disorders and mutations. It can help identify if you and your partner are carriers for the same conditions.
• Pharmacogenetics
  If you suffer from a certain disease or health condition, pharmacogenetics can help find out what medication and dosage will be the most beneficial and effective for you.
• Prenatal testing
  If you are a pregnant female, some types of abnormalities in the genes of your baby can be detected with the help of testing. Trisomy 18 syndrome and Down syndrome are two genetic disorders that are usually screened for as a part of prenatal genetic testing. This is traditionally performed by looking at blood markers or by invasive testing like amniocentesis. Newer testing techniques such as cell-free DNA looks at a baby’s DNA via a blood test done on the mother.
• Newborn screening
  This is the commonest type of genetic testing that is used to test newborns for certain genetic and metabolic abnormalities that can give rise to certain conditions. This genetic testing type is important because if results reveal a disorder like sickle cell disease, congenital hypothyroidism, or phenylketonuria (PKU), treatment and care can be started without any delay.
• Preimplantation testing
  Also known as preimplantation genetic diagnosis, this investigation may be employed when you try to conceive a child by in vitro fertilisation. The embryos are screened for genetic abnormalities. Embryos who don’t have any abnormalities are implanted in the uterus so that pregnancy can be achieved.

Risks

Generally, very little physical risk is associated with genetic tests. Cheek and blood swab tests have almost no risk associated with those. However, some prenatal tests like chorionic villus sampling and amniocentesis have a small risk of causing miscarriage or pregnancy loss.

Before the procedure, you must try to gather as much information as possible about the medical history of your family. Then, you must talk to a genetic counsellor or a doctor about your personal and family medical history so that they understand your risks better. You can ask questions and discuss any concerns about genetic testing with your doctor. Also, discuss your options, depending on the results of the test. If you are being tested for an inherited genetic disorder, you can consider discussing your decision to undergo genetic testing with your family.

Depending on the type of test you are recommended, your blood sample, skin sample, or a sample of your amniotic fluid or other tissue will be taken and sent to a laboratory for analysis.

• Blood sample
  A healthcare team member collects the sample by introducing a needle into a vein in your arm. For newborn screening tests, a sample of blood is collected by pricking the heel of the baby.
• Cheek swab
  Some tests require a swab sample from the inside of the cheek. It is collected and used for genetic testing.
• Amniocentesis
  In this prenatal genetic test, the healthcare provider inserts a hollow, thin needle via the abdominal wall into the uterus and collects a small sample of the amniotic fluid so that it can be tested.
• Chorionic villus sampling
  This prenatal genetic test requires a sample from the placenta. Depending on the situation and your overall condition, the sample may be collected from the cervix or the abdominal wall with a tube using a thin needle.

Results

The amount of time taken to receive the results of the genetic test depends on the type of test. You can talk to a genetic counsellor or a medical geneticist prior to the test regarding when you can expect to receive the results of the test and have a discussion regarding those.

• Positive results
  If the result of the genetic test is positive, it means that the genetic change that was being tested for was diagnosed. After you receive a positive result, the steps you take will depend on the reason you had genetic testing.
• If you want to
  Diagnose a certain condition or disease, a positive result helps you and your healthcare provider determine the right treatment and management plan.
  Find out if you have a gene that could cause a disorder in your child, and the test is positive, your healthcare provider, genetic counsellor, or medical geneticist can help you find out your child’s risk of actually developing the disease. The test results also help to provide information so that you and your partner make family planning decisions. Having a positive test for a certain disease doesn’t necessarily mean that you have the disease. For example, if you have a gene for breast cancer, it means that a positive test doesn’t necessarily mean that you will develop the disorder. However, for some conditions like Huntington’s disease, having an altered gene doesn’t indicate that the disease will develop eventually.
  You must talk to your healthcare provider about what a positive test result means for you. In some cases, you can make some lifestyle alterations that may reduce your risk of developing a disease, even if you possess a gene that increases your susceptibility of causing a disorder. Results may also help you form choices related to family planning and treatment.
• Negative results
  Having a negative test result indicates that a mutated gene was not detected by the test. Even though it is reassuring, there is no 100% guarantee that you don’t have the disorder. There is variation in the accuracy of genetic tests to detect mutated genes, depending on the condition being tested for and if the genetic mutation was previously seen in a family member. Not having the mutated gene doesn’t mean that you won’t get the disease. For example, the majority of patients with breast cancer don’t have a gene for breast cancer.
• Inconclusive results
  A genetic test may not provide helpful information about the genes in some cases. The way genes appear is different for everyone as these variations don’t affect your health. However, it can sometimes be challenging to distinguish between a harmless gene variation. These changes are known as variants of uncertain significance. Follow-up testing or periodic reviews of the genes over time may be needed in these situations.
• Genetic counselling
  Whatever the results of your genetic testing are, you must talk to your medical geneticist, doctor, or genetic counsellor regarding any concerns or questions you may have. This will aid you in understanding what the results mean for you and your family.

Genetic Disorders

Genetic disorders happen when a mutation affects your genes or when you have the wrong amount of genetic material. Genes are composed of DNA, which contain certain instructions for the functioning of the cell and the characteristics that make you unique. Half of your genes come from each biological parent and you may even inherit a genetic mutation from one of the parents or both. Sometimes genetic changes occur due to issues or mutations within the DNA. This can increase your risk of developing a genetic disorder. Some lead to symptoms at birth, while others form over time.

Genetic disorders can be:

• Chromosomal
  These genetic disorders affect the structures that hold the DNA or genetic material within the chromosomes of each cell. With these conditions, people have duplicated chromosome material or missing genes.
• Multifactorial or complex
  These disorders occur due to a combination of genetic mutations and other factors. They include diet, chemical exposure, tobacco or alcohol use or certain medications.
• Monogenic or single-gene
  These conditions occur due to a single genetic mutation.

Genetic disorders are of many types, including:

• Chromosomal disorders
  Chromosomal disorders include FragileX syndrome, Down syndrome (Trisomy 21), Turner syndrome, Klinefelter syndrome, Trisomy 18, Trisomy 13, and Triple-X syndrome.
• Multifactorial disorders
  Multifactorial disorders include Arthritis, Late-onset Alzheimer’s disease, Cancer, Autism spectrum disorder, Coronary artery disease, Migraine headaches, Diabetes, and Spina bifida.
• Monogenic disorders
  Monogenic disorders include deafness present since birth, cystic fibrosis, familial hypercholesterolemia, duchenne muscular dystrophy, neurofibromatosis type 1, haemochromatosis, Tay-Sachs disease, and Sickle cell disease.

Genetic disorders may also give rise to rare diseases. Rare genetic disorders include Adrenoleukodystrophy, amyloidosis, Ehlers-Danlos syndrome, Usher syndrome, and mitochondrial diseases.

To understand the causes of genetic disorders, it is helpful to learn more about how your DNA and genes function. Most of the DNA in the genes instruct the body to produce proteins. These proteins start complex cell interactions to help you stay healthy. When a mutation happens, it affects the protein-making instructions of the genes. There could either be missing proteins or the ones you have don’t work properly. Environmental factors that could cause a genetic mutation include radiation exposure, chemical exposure, UV exposure from the sun, and smoking.

The symptoms of genetic disorders vary depending on the type of disorder, its severity, and organs affected. You may experience:

• Breathing problems.
• Behavioural changes or disturbances.
• Developmental delays that include challenges with social skills or speech.
• Cognitive deficits, when the brain can’t process information as it should.
• Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients.
• Facial or limb anomalies, which include missing fingers or a cleft palate and lip.
• Movement disorders due to muscle weakness or stiffness.
• Neurological issues such as stroke or seizures.
• Short stature and poor growth.
• Hearing or vision loss.

Having a family history of a genetic disorder means that you should consider genetic counselling to determine if genetic testing is right for you. Laboratory tests can typically reveal if you have genetic mutations responsible for that condition. Carrying the mutation does not always mean that you will end up with the disorder in many cases. Genetic counsellors can explain your risk and help you determine if there are steps you can take to protect your health. If you have family history for a certain type of genetic disorder, DNA testing for genetic disorders is an important part of starting a family.

Options include:

• Carrier testing
  This blood test indicates if you or your partner carries a mutation associated with the genetic disorder. This is recommended for everyone considering pregnancy, even with no family history.
• Prenatal screening
  This testing typically involves taking blood from a pregnant female and screening it. It tells them how likely it is that a foetus could suffer from a common chromosome condition.
• Prenatal diagnostic testing
  You can determine whether the developing foetus is at a high risk of developing genetic conditions. Prenatal testing depends on a sample of fluid from your uterus.
• Newborn screening
  This test uses a sample of the blood of your newborn baby and helps to detect genetic disorders early in life so that your child receives timely care if needed.

The Department of Laboratory Medicine at Kokilaben Dhirubhai Ambani Hospital, Indore houses highly qualified and experienced medical professionals who are dedicated to quality service and patient care. All of the reports are created by highly qualified physicians with great accuracy. To prevent tampering with samples and deliver accurate findings, all of our laboratories adhere to international norms and quality standards. In addition to providing a wide choice of testing options, the laboratories also guarantee quick results delivery.

Access the best laboratory in Indore which provides international standard services using highly advanced equipment. The highest level of professionalism is followed during all procedures to enhance the results. Our laboratories are computerised workplaces equipped with high-end software for Hospital Information systems (HIS) on which information regarding the patient’s medical condition and reports is uploaded. All the other departments are equipped with the software so that the concerned doctors can access the patient’s data at the click of the mouse. This saves time as well as increases the efficiency of the entire treatment process.

Key Features of our Biochemistry and Immunology Laboratory

• Our quality management standards and protocols have achieved a six sigma score, apart from appreciation from both the International Federation of Clinical Chemistry and the American Association of Clinical Chemistry.
• All our processes are performed in accordance with standard operating procedures. Each batch of specimens is tested with internal quality control samples. Before releasing the patient’s results, we make sure that the quality control results meet all statistical control criteria.
• We actively participate in International External Quality Assurance Programs, which enhance the quality of our services and results.
• We were the only Asian members in the IFCC six-member committee for Standardization of Thyroid Function Test (C-STFT) 2012-2014.
• Our laboratories are equipped with cutting-edge diagnostic machines and other equipment. We follow a completely automated system ranging from barcoding to bilateral interfacing of test results. This ensures elimination of manual errors.