Consumer genomics

Consumer genomics

Subject: Science and Technology

Context: the Covid-19 pandemic given a boost to direct-to consumer (DTC) genome sequencing services

Concept:

DTC genomics, where a lab provides sequencing (and, if called for, genetic counselling) services directly to the consumer, without the intervention of a doctor.

Technique of DTC genomics /genome sequencing: ‘single nucleotide polymorphisms’ (SNP)

• ‘Single Nucleotide Polymorphisms’ (SNP) in the non-coding genes. The SNP is a variation in the position of a single nucleotide in a DNA sequence (eg, in place of a nucleotide Adenine you have the nucleotide Cytosine).
• Single Nucleotide Polymorphisms (SNPs) are sites in the individual genome that have at least two different nucleotide bases at the same location.
• This point mutations or substitution of a single nucleotide, do not change the overall length of the DNA sequence in that region. Presently.
• The SNPs are used as tools for Applications of Genetic Polymorphism studying variation within human populations or between different populations. Over the past years, a large number of different SNP technologies have been developed based on various methods of allelic discrimination and detection platforms

Advantages

• SNPs themselves do not cause disorders, they just red-flag them because some SNPs are associated with certain diseases.
• It is impossible to exhaustively list all possible applications. The more important ones are:
• Inferring population histories and affinities,
• Reconstructing mutational patterns and dating occurrences of mutations in populations,
• Relating inferences in demographic histories of populations,
• Mapping disease genes
• Tracing trials of disease and other genes.
• Forensic anthropology
• Suggest the age, sex, ancestry, stature, and unique features of a decedent from the skeleton.

The benefits of consumer genomics

• A genome test can look into your genes, check for any anomalies and make some predictions, such as whether you are predisposed to a certain disease.
• In effect, a genome testing can lead to expert advice on what you should or should not eat, whether you would be a good athlete or a musician, which drugs work best for you if you acquire a disease, to which part of the world you trace your ancestry, and so on
• It allows hospital network for delivering next-generation sequencing and “personalised and preventive healthcare.
• Due to the ongoing Covid pandemic, people have become more health-conscious, potentially leading them to use new and advanced techniques like consumer genomics
• Emerging technologies that are making consumer genomics more affordable.
• People can check their ‘ancestry’ out of curiosity.
• Consumer genomics has big scope in screening for specific mutations for cancer,” For diseases such as diabetes, heart and cancer, identification of the gene associations can help develop precision medicine

Concerns

• A full genome profile could cost up to ₹1 lakh
• Data security is the biggest of them. Labs sitting on heaps of data might lead to privacy issues. Experts say that while existing laws cover these privacy issues, a separate regulation for consumer genomics is desirable