Gene Testing – The Magic Within Science

Shreya was a pharmaceutical professional. Seven years ago, when she considered marriage and children, being from the healthcare background, she decided to go for gene testing as in the past, ovarian cancer killed her grandmother and aunt too. Ironically, she tested positive for BRCA1, which raises the risk of breast cancer up to 85% by age 70 and ovarian cancer by 55%. As she was expecting it to some extent, it did not take her for a shock but was surely anxious and overwhelmed. With test results in hand, she had to act fast. Fortunately she still had the time in hand to map certain things ahead in life. After thorough and at length discussions with doctors, her long-time boyfriend and the family; she planned things meticulously. Got married and gave birth to a daughter and had her ovaries removed by the age of 32. Three years later, she had a double mastectomy (removal of breasts) done. All this may sound too dramatic and filmy a step to take but this is the best possible preventive measure that can be taken to save the trauma of getting cancer or may be dying of it. Now let’s go in a little more detail about this revolutionary gene testing thing. How remarkable it is if a person would get to know that he MIGHT get a heart disease some years down the line, simply by getting his saliva tested? And believe me it is no magic, just pure science! Each individual has a unique genetic makeup that is one reason why there is a disparity in the risk factors of different people for certain diseases and their response to medical intervention. On knowing that a particular person is going to develop diabetes in future, preventive strategies like appropriate diet, exercise, and even in forms of drugs can be advised and implemented on time. Once you are aware of your “high risk” conditions, taking preventative measures is the next logical step. The results of gene testing should further be carried forward ahead as

• Making changes in one’s lifestyle, giving up various habits or taking out certain foods out from the diet.
• Entailing regular tests to monitor a potential threat.

Image courtesy: http://www.genesinlife.org/testing-services/testing-genetic-condition What all it can predict?

Though gene testing can predict hundreds of diseases but the ones with higher risk for health deterioration that can be inherited and still be prevented are:

• Cardiovascular diseases
• Diabetes
• Alzheimer’s diseases
• Dyslipidemia
• Hypertension
• Cancer- Breast, colorectal, oesophageal, head and neck, prostate and colon
• Stroke
• Osteoporosis
• ADHD, Schizophrenia
• Obesity
• Endometriosis
• Uterine fibroids

How this magic works?

The test is simpler and quicker than withdrawing money from an ATM!

• A sample from inside of the cheek is taken by gently rubbing a brush over it. This swab is then sent to the laboratory.
• Results reach back within 5 to 10 weeks.

Image courtesy: http://symposcium.com/2013/04/16/what-is-in-a-home-genetic-test-kit/

Indications for gene testing

A lot and varied! It can come in handy for detecting many more things beyond predicting the occurrence of several fatal diseases later in life.

Disease – Identification and prevention

• Predicting diseases: If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you're at risk of developing that condition.
• To confirm a suspected diagnosis: If you have symptoms of a disease that may be caused by genetic modification, genetic testing can reveal if you have the suspected disorder.

To check for drug efficacy: If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.

Pre-marital: If one of the partners has a family history of a genetic disorder, such as sickle cell anaemia or cystic fibrosis, it is advisable to have genetic testing before one gets married or have children. This type of genetic testing may also be useful if someone has a high risk of a particular genetic disorder. Genetic testing can determine if you carry a copy of an altered gene that would put a child at risk of developing the disorder.

During pregnancy: In situations when the maternal age is greater than 35 at the time of delivery, abnormal screening test results, a family history of a genetic disorder or birth defect, multiple miscarriages, exposure during pregnancy to medications or drugs, and known fatal abnormality are found, gene testing proves helpful.

Spina bifida and Down syndrome are two genetic disorders that are often screened for as part of prenatal genetic testing.

Neo-natal screening: This type of genetic testing is important because if results show there's a disorder such as congenital hypothyroidism or phenylketonuria (PKU), care and treatment can begin right away.

Assisted conception: In cases of an IVF, pre-implantation testing can be done to lower the chances for the child to have a particular genetic disorder. During the process of IVF, the embryos are screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy.

For athletes and sportsperson: Genetic test that analyses specific genes associated with an individual’s sport (track and field, power sports, and endurance) and exercise performance. In addition, genes relating to injury and recovery are tested to provide an assessment of risk factors that may have otherwise gone unnoticed.

Image courtesy: http://www.geneticliteracyproject.org/2012/12/31/can-genetic-testing-help-prevent-the-next-mass-murder/

Oops, it has a flip side too...

Everything in life has two sides to it; good and bad. As we have understood huge advantages of gene testing in respect of disease prediction leading to its early prevention, there are couple of downsides to this revolutionary technology as well.

Psychological impact: First, there are the emotions aroused by learning that one is likely to develop a serious disease. Many people in a families have already seen close relatives fall victim to a particular disorder. The news that they do indeed carry the disease gene can elicit depression, even despair.

Familial issues: Unlike other medical tests, gene tests reveal information not only about the person itself but about for his other relatives. If a baby tests positive for sickle-cell trait, for example, it follows that one of his or her parents is a carrier. It is also possible for gene tests to inadvertently disclose family secrets involving paternity or adoption.

Emotions elicited by test results can produce a shift in family dynamics. Someone identified as carrying the gene may feel anger, while one who has escaped may be overwhelmed by guilt for avoiding a disease that afflicts a close relative.

Confidentiality/privacy: Though regulations and legal implications stand strong but still one can never be sure of who should be privy to that information? Will a predisposition for cancer, for instance, remain secret - or could there be an information slip out? The concern is that test results might someday be used against a person. Some people have been denied health insurance, some have lost jobs or promotions, and some have been turned down for adoptions because of their gene status.

Discrimination: One may face discrimination for health insurance, life insurance, or employment.

Science and scientist are still trying to firm their feet in the market and trying to gauge the true worth and the scope of gene testing, which is huge and unparalleled in revealing the future of our health.

Talk to your physician to know more about this revolutionary science or surf the net.

.... and from us,

ciao for now!!