Genomic screening has gained a lot of attention in recent years as a powerful tool for early detection and intervention and personalised disease management strategies. Now, healthcare providers are not restricted to physical symptoms when diagnosing diseases. By adopting the genetic screening approach, medical specialists can predict your risk of developing certain diseases by looking at your genes. 

But how exactly does genomic screening work? Let’s dive deeper to understand how genetic screening can help predict inherited diseases for your genes and what genomic tests come to help. 

What’s Meant by Genomic Screening?

Genomic or genetic screening is a tool used to analyse an individual's DNA to identify variations or mutations that could make them vulnerable to a particular disease. This screening helps identify individuals who carry a specific gene for certain disorders like cancer, diabetes, or cardiovascular conditions.

By pinpointing altered genes in individuals and determining their risk for any medical ailment, medical professionals are able to provide personalised preventive measures and early treatment options. 

How Can Genomic Testing Predict Inherited Disease Risk?

Your genes are made up of DNA, which contains the genetic information that determines your various traits, from hair or eye colour to height and body shape. Sometimes, these instructions can have errors or changes called mutations. Genetic screening is about identifying these variations or mutations in your genes, as they can increase your risk of developing certain health conditions.

It all starts by taking your DNA sample, usually saliva, blood, or tissue. Next, clinicians analyse your DNA using computer programs and ‘written out’ as a letter code, which is unique for every individual. During analysis, experts look at the large sections of the code to determine whether any of your genes are different to what they normally should be. If variations are found, they are further examined to see if the identified genetic variant can affect your health and how. 

You can inherit genetic mutations from your parents, which can predispose you to certain genetic disorders. For example, around 5% to 10% of all cancers are caused by harmful mutations in the BRCA1 and BRCA2 genes that are inherited from a parent. 

So, experts can make cancer predictions like what type of cancer you might have, at what age you might develop it, cancer stage, and much more by just identifying and analysing potential variations in your DNA sequencing.

Knowing Different Types of Genetic Screening

A human genome comprises around 23,000 genes. Various types of genetic screening are performed depending on which and how many genes are to be examined and the possibility of which disease is to be determined. This section outlines different types of genomic tests performed to detect varied types of diseases in your genes:

• Newborn Screening

This type of screening is performed in infants shortly after their birth to identify genetic conditions that can be treated early in life. The infants are often genetically tested for conditions like phenylketonuria (a genetic ailment causing intellectual disability) or congenital hypothyroidism (a thyroid gland disorder).

• Diagnostic Testing

This testing is used when you already suspect having the symptoms or signs of a genetic disorder, helping you to confirm or rule out specific genetic conditions. Although diagnostic testing isn’t available for all genetic conditions, it can be performed at any time, right after birth or during childhood or adulthood, for conditions like cystic fibrosis or muscular dystrophy.

• HotSpot Profiling

This genomic screening focuses on specific locations within a gene where mutations are most likely to occur. Now that HotSpot profiling analyses specific gene areas without testing the rest of the gene, it often misses potentially actionable alterations.

• Comprehensive Profiling

Comprehensive genomic profiling involves analysing an entire gene to provide a complete picture of all possible alterations that might increase the risk of disease development. Moreover, this screening method expands on HotSpot profiling to analyse coding and non-coding DNA sequencing for a comprehensive view of your genes. 

• Carrier Testing

Carrier testing is recommended for individuals who carry a genetic mutation that’s not harmful to them but might pose a risk to their offspring. This genetic screening is commonly performed for recessive genetic disorders, such as Tay-Sachs disease or sickle cell anaemia.

• Predictive and Pre-symptomatic Testing

These tests are used when no symptoms have been developed yet, but a genetic mutation might get carried and contribute to disease development later in life. For example, testing for BRCA1 or BRCA2 gene mutations can help make cancer predictions.

• Prenatal Testing

Does any member of your family have a genetic disorder? If yes, you should undergo prenatal genetic screening. This genetic screening can help detect changes in your foetus’ genes or chromosomes before birth, helping you determine all possible inherited diseases and birth defects. 

• Single-Gene Testing

Experts can identify mutations or variations in a single gene by performing single-gene testing. If you suspect having a specific genetic disorder based on your family history or symptoms, you can undergo single-gene testing to confirm a diagnosis. This testing is often recommended for conditions like Huntington’s disease, Duchene muscular dystrophy, or sickle cell disease.

• Panel Genetic Test

Panel testing examines many genes in a single test to assess the risk for a range of medical conditions. Experts group genetic testing panels into different categories depending on different health concerns. For instance, genetic panel tests can help diagnose short stature, low muscle tone, and epilepsy. In addition, these tests can be grouped into the genes connected to a higher risk of developing cancerous tumours like breast, colorectal, or ovarian cancers.

Final Words

Although genomic screening is still in its early stages and requires further research, it holds great promise in predicting diseases for your genes. With the increasing application of genetic testing, it has become possible to determine your chances of inheriting certain disorders from your parents or family. 

Are you pregnant and want to know your unborn baby’s health condition? Or are you experiencing symptoms and want to know whether you are at risk of any genetic disorder? You can trust Medanta for accurate diagnosis via varied genomic tests and effective treatment options.