One of the greatest influences on your health is your family’s medical history. It can hold a number of important clues about your risk of developing an inherited or partially inherited disease later in life. We inherit our genes from our parents and our gene structure dictates how our body grows and regulates. Genes are responsible for traits such as eye colour and height, but they also determine whether we are more likely to develop certain illnesses and how we may respond to certain medications.
Genetic testing can reveal important details of your family’s medical history, thus helping to highlight any potential susceptibility to a wide range of conditions, including high blood pressure, heart disease, stroke, type 2 diabetes, and many different kinds of cancer.
When genes are damaged or abnormal they can trigger these medical conditions. Such ‘gene mutations’ can be hereditary, or they can occur by chance. A gene mutation can be the sole cause of a medical problem, but most diseases occur due to a combination of genetic and other factors. While you can’t change your genetic makeup, you can make changes to your lifestyle that can help to considerably lower the health risks that run in your family.
What is genetic testing?
Genetic testing provides information about your genes and chromosomes, identifying changes in the DNA (the complex chemical that carries genetic information, found in the nucleus of most cells). It can help identify a potential predisposition to a particular disease.
Genetic testing provides information about your genes and chromosomes, identifying changes in the DNA.
The procedure is usually very simple, involving a sample of blood, hair, skin, urine, amniotic fluid (the fluid that surrounds a foetus in the womb during pregnancy) or other tissue, which contains your DNA. Cell collection can be carried out by a qualified practitioner or you can do it yourself at home, using a simple method such as a buccal smear (a small brush or cotton swab brushed across the inside of the cheek) and a simple-to-follow self-test kit. The kit is sent through the post with full instructions and you post your sample back to the laboratory, where it is analysed for genetic information. The results are sent back to you in the form of a report. In most cases, any questions relating to the reported information can be made to an expert team or can be passed on to affiliated medical practitioners, who can offer more detailed advice.
A positive test result for a specific condition is not a diagnosis, rather it shows a potential predisposition to a particular disease. It also means there is a chance you could pass the mutation to your children. A negative test result means that you don’t have the gene mutation – however this doesn’t guarantee you won’t contract the disease. It simply means that your risk of the disease is the same as it is for other people with no family history of the condition.
Why consider genetic testing?
There are several arguments for having yourself genetically tested.
To determine your risk of getting a certain disease: Predictive and presymptomatic testing is a way of detecting disorders that may appear after birth, often later in life. This can be helpful if, for example, a member of your family has a genetic disorder but you are not showing any signs of that disorder at that time. Predictive testing can identify mutations that increase your risk of developing such disorders, such as certain types of cancer – view our cancer dna tests here. This information can then be useful in working out changes you may need to make in connection with your lifestyle and healthcare.
To determine the risk of passing a disease to your children: Carrier testing is used to identify people who carry a gene mutation that is linked to disease. Carriers may show no symptoms of the disease themselves but can pass the gene on to their children, who may develop the disease or become carriers themselves. Some conditions require a gene change to be inherited from both parents for the disease to occur. This type of testing is useful if you have a family history of a specific inherited illness or you belong to one of certain ethnic groups that have a higher risk of specific inherited diseases.
To screen your embryo, fetus or baby: Genetic testing can take place before a baby is born to find out the likelihood of a child having a genetic or chromosomal disorder, although not all inherited conditions can be identified this way. Newborn screening can also identify any genetic disorders that may be treatable early in life.
What can genetic testing tell you about your health?
Diagnosing a specific disease or allergy, or making you aware that you have a higher risk of developing a specific condition, could provide an important incentive to make healthier lifestyle choices, such as changing what you eat, cutting down on alcohol, taking regular exercise, making time for relaxation, and stopping smoking. All of these are factors that could affect your condition and lower your risk.
You might be able to get treatment to prevent the disease from developing in the future. This includes medicine or surgery. Some women who discover they have the BRCA1 or BRCA2 cancer gene mutation, for example, choose surgery to have their breasts or ovaries removed, which significantly reduces their risk of developing the cancer.
Some genetic diseases respond better to certain treatments. If you are diagnosed with a cancer that has a genetic link or are at risk from such a cancer and eventually develop it, you can ensure you are given the most effective treatment for your illness if you know the condition that lies behind it.
Genetic testing: Where it helps the most
Here are some key areas where genetic testing is most effective.
Diet and nutrition testing: Whether you’re looking to lose weight, get fitter or just improve your general state of health, a genetic test can be a big help. A simple buccal smear test can give you an insight into a wide array of genetic predispositions affecting your weight, food intolerances, eating habits, nutrient metabolism, body composition and physical fitness and performance. Being armed with a genetic analysis enables you to seek advice on the specific lifestyle changes you can make to improve your situation, from dietary changes to the best type of exercise for you and your metabolism. According to recent research, people on genetically approved diets lose weight more easily.
Whether you’re looking to lose weight, get fitter or just improve your general state of health, a genetic test can be a big help.
Cardiovascular health testing: According to the World Health Organization (WHO), cardiovascular diseases (CVDs) are the world’s leading cause of death, accounting for nearly one third of all global deaths. A study in the US found that 50-60% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors. A genetic test obtained through saliva can provide valuable information on a variety of heart-related conditions including coronary heart disease (CHD), CAD, heart attack, stroke, aneurysm, high blood pressure, deep vein thrombosis (DVD), and congestive heart failure. Results can then be analysed and appropriate recommendations made, such as dietary changes, further screening protocols and supplementation to help improve the situation.
Cancer tests: Between 5% and 10% of all cancers are hereditary. Knowing your risk can enable you to manage your health proactively. This genetic test analyses 32 different genes, including the BRCA1 and BRCA2 cancer genes, to help men and women understand their risk for the most common hereditary cancers: breast, ovarian, uterine, stomach, colon, melanoma, prostate and pancreatic cancer. Depending on the findings, appropriate advice and follow-up recommendations are then made. This could involve your doctor prescribing preventative medication or setting up a thorough screening programme, where you have screenings more regularly to enable earlier detection.
Gut health tests: When an imbalance occurs in the microbiome (bacteria and other microbes) of the gut, it can have far-reaching consequences for your health and lead to a number of problems, ranging from gastrointestinal discomfort through to weight gain, joint pain and fatigue. A genetic test of the gut provides a personalised profile of an individual’s microbiome, identifying and quantifying a wide range of organisms in the digestive system, which can directly impact upon a person’s health. The genetic test can identify the gut organisms associated with common illnesses, such as irritable bowel syndrome (IBS), Coeliac disease, Crohn’s disease and diabetes. It can also, if required, suggest solutions to improve gut flora through easily implemented lifestyle changes and specific supplement recommendations.
Genetic testing gives you incredible in-depth knowledge, which can give you the power to understand whether you might have a predisposition to a number of chronic conditions. For the sake of a simple DIY test, you could even add years to your life.
References http://www.who.int/mediacentre/factsheets/fs317/en/ https://www.cdc.gov/dhdsp/data_statistics/fact_sheets/fs_heart_disease.htm https://www.cancer.gov/about-cancer/causes-prevention/genetics
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