Genetic testing identifies changes in the chromosome structure or DNA sequence. It is also used to identify changes in genes and proteins, and it also plays a great role in diagnosing genetic disorders and the healthcare industry.

In the 1950s, the first genetic prenatal screens were developed as early advancements with the discovery of additional copies of chromosome 21, which caused Down’s syndrome with the development of the karyotyping test, combined with the ability to collect fetal cells from a pregnant woman’s amniotic fluid.

Genetic testing can be divided into two eras: Before the Humana Genome Project and after the Human Genome Project. The defining event between them was the announcement of the first draft of the human genome in 2000, a breakthrough in Genetic Testing.

In the present scenario, genetic testing techniques such as “whole exome sequencing” and microarrays have increased the accessibility of genetic testing by providing quick and cost-effective data. The whole-genome sequencing technique is used in the protein-coding region of the genome, and the microarrays technique probes for sets of specific variations in the DNA.

With advancements in genetic testing, leading companies like Genesight and BiogeniQ have improved upon traditional whole-genome testing platforms by analyzing how a subset of a patient’s genes may affect their medication outcomes at a fraction of the cost. Results from these technologies can inform doctors about how each patient may respond to certain medications and avoid unsafe and ineffective medications.

Types of Genetic Testing

Different types of genetic tests are performed to analyze changes in genes and chromosomes, several factors are considered before going for an appropriate test if any specific condition is suspected then more focused tests are performed, different types of tests are as

1. Single Gene Testing-
   Single-gene tests detect any genetic changes in one gene. It is used to confirm a specific diagnosis, especially when many variants in the gene can cause the suspected condition.
2. Panel Testing
   This test is specific for detecting changes in many genes. Genetic testing panels are being categorized on medical concerns. Low muscle tone, short stature, or epilepsy are genetic panel tests. It can also be grouped into genes associated with a higher risk of developing certain kinds of cancers.
3. Large-Scale Genetic or Genomic Testing
   There are two types of large-scale tests performed in large-scale genetic testing; the test is highly preferred for people with complex medical histories, and also it is the most cost- and time-effective than single-gene and panel tests. Further, it has been divided into two types-:
   1. Exon sequencing- The test looks for all the genes present in the DNA(whole genome) or specific genes related to medical conditions.2. Genome sequencing- The test looks at all of a person’s DNA, not just genes.

Advancements in genetic testing

The diagnostic odyssey of suspected hereditary diseases has been revolutionized with the advancements in sequencing technologies. Previously genetic testing was used to provide rapid results rarely. Still, with the advances in technology, the landscape for the diagnoses and treatment of genetic disorders is shifting and evolving, and the speed result outcome has also become more efficient.

The most recent advances in sequencing technologies and clinical genetic testing are as follows:

Next-generation sequencing data with increasing speed and high accuracy

CN-Learn Tool- The tool provides a random forest classifier based on CNVs(Copy number Variants) predicted by four independent exome-based CNVs(Copy number Variants) callers and distinguishes true CNVs(Copy number variants) at an exceedingly high precision and recall rate. The tool follows the Random forest classifier algorithm.

Clinical genetic testing for the diagnosis of hereditary diseases
Advancements in high-throughput sequencing and computational technology have made it much easier and possible to perform comprehensive genetic testing in clinical practice, mainly through Exome Sequencing (ES) and by using the sequence-specific capture and NGS(Next Generation Sequencing) technology which targets the protein-coding regions of all human genes, which represent 1% of the genome but contain approximately 85% of known disease-associated variants.

Genetic testing application:-

Genetic testing is already playing a key role in diagnosing genetic disorders in the healthcare industry. Sequencing technology has made great advances in the healthcare industries, although there are four major applications of genetic testing in healthcare industries-

• Genetic Disease Diagnosis:
  So far, many Inherited disorders are being identified by performing genetic testing, which plays a key role in the early treatment of the disease.
  1. There are several tests for diagnosing inherited genetic disorders.
  2. Many target single genes such as cystic fibrosis, sickle cell disease, etc.
• Carrier Screening Testing:
  1. Carrier screening testing is done to confirm if someone carries a copy of a gene that could lead to a genetic disorder in their child if combined with a similar variant gene copy from their partner.
  2. It is also done when an individual or couple has an autosomal recessive disease family history.
• Genetic Testing to Guide Cancer Treatment:
  1. Some genetic changes are not passed to the next generation but arise in an individual’s cells later in life.
  2. These are known as somatic mutations, and they underlie many forms of cancer.
  3. Here, genetic testing can provide information on an individual’s prognosis and guide treatment.
• Forensic Identity Testing:
  1. This test plays a key role in identifying an individual by analyzing nuclear or mitochondrial DNA extracted from some biological material: blood, tissue, hair, bone, etc.
  2. In case when a sample is severely degraded or if only hair shafts with no attached cells are available, Mitochondrial DNA, which is “extra-nuclear,” is used.

Future of genetic Testing-

The future of genetic testing, especially direct-to-consumer genetic tests, is becoming more popular day by day. Governments are also looking to collect and utilize genetic data in clinical and research settings, so in the future, it appears the amount of genetic data will rapidly increase. As more information is extracted from the available resources, genetic testing will become more valuable. It will play a prevalent role in many aspects of medicine and healthcare in the years to come.

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