Genetic Screening: An Introduction

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Hello, my name is Andy and this is my health care blog. If you want to enjoy everything that life has to offer, it is important that you take good care of your health. I am not a doctor but over the years, I have learnt a thing or two about eating well, exercising and how to spot the signs that you need to visit a doctor. It wasn't always this way. I used to actively avoid visiting the doctor until I married my wife who is a nurse. She taught me how to be healthy and for that I am extremely thankful.

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Genetic Screening: An Introduction

17 November 2020
 Categories: , Blog


If you are considering if you should be screened for an illness, you may have some questions about the process and the benefits and drawbacks of this approach. This article answers two common questions.

What exactly is genetic screening?

Genetic screening is the process of searching for a genetic cause of a certain illness. There are hundreds of genetic mutations in DNA, which is the genetic material of every person. Some of these mutations can cause cancer and other diseases, while others may have no known effect. In order to find out if a gene is at fault, geneticists may use gene sequencing techniques. In this process, scientists extract a small part of the DNA and look for a change in its sequence. The DNA can be sequenced by creating tiny segments of it and sequencing each of these pieces. If a change is found, that may be the cause of a genetic disorder. Gene sequencing may find a mutation that causes a genetic disorder. If it does, then genetic screening can be used to investigate this information further.

Should you be screened?

If a disease is well-known and regularly associated with a genetic mutation, then genetic screening is a good option. Genetic testing can also help to investigate whether there is an inherited disease or genetic trait. For example, if a parent has the gene for Huntington's disease, then their child can have this disease. The tests may also be able to look for other inherited diseases, including cystic fibrosis and muscular dystrophy. If a parent has a specific gene variant that increases their risk of certain genetic diseases, this can cause problems for their children.

Because several genetic diseases can severely reduce the length and quality of your life, you should think carefully before getting a test done. If testing will bring you peace of mind or if it will allow you to start early treatment which improves your prognosis, then you may wish to seize the opportunity. However, if you feel that knowing you have a genetic disorder which increases the chance you will experience a premature death, you may choose to refuse the test so you can live a worry-free life.

If you would like further help and support, you should make contact with your local healthcare provider. A member of the medical team will be happy to discuss your options when it comes to genetic screening