Inherited Risk, Individual Solutions: Genomics and Germline Testing for Cancers

Most hereditary cancer syndromes follow an autosomal dominant pattern of inheritance, indicating a 50% chance that a child will be affected if one of their parents carries the genetic mutation. Recognizing this hereditary link early becomes paramount. Pre-emptive testing, a proactive measure, allows individuals with a family history of hereditary cancer syndromes to undergo genetic testing before any symptoms manifest. This early detection not only unveils potential risks but also provides an opportunity for personalised preventive strategies.

Navigating the complexities of genetic predisposition involves not only understanding inheritance patterns but also actively engaging in pre-emptive testing and timely preventive measures, creating a powerful narrative of empowerment against the shadows of hereditary cancer risk. 

Genomics, the study of an individual’s genes and their interactions, play a pivotal role in identifying and understanding hereditary cancer risks. In the past, genetic testing for hereditary cancer syndromes was a costly affair, making it less accessible to many. Even though Angelina Jolie created mass awareness about BRCA testing, at $4,000 per test, it was not a cost-effective option for the general public.

During the time of Dr. Lynch and Dr. King’s research, DNA sequencing was not yet possible, the Polymerase Chain Reaction (PCR) technique was recently developed, and ‘genome sequencing’ was a far-fetched dream. The Human Genome Project’s successful conclusion in 2003 paved the way for researchers to comprehend the fundamental structure of the human genome.

In 2011, Steve Jobs, the CEO of Apple Inc. was among the first 20 people to get his genome sequenced in the hope of finding better treatments to battle his cancer. However, it cost him $100,000 to do this. Advancements in sequencing and analytic techniques have led to the rapid plummet of costs for genome sequencing. Illumina machines can today sequence a genome for approximately $200 (approx Rs 16,000).

Genome sequencing today has reached a turning point, enabling its deployment in clinical settings with rapid turnaround times, and also allowing us to delve deeper into the intricate genetic underpinning of a disease like cancer.

Unlike traditional “one-size-fits-all” approaches, genomic testing equips us to unearth subtle genetic variations that predispose individuals to specific cancers, drive tumour development and progression, and even predict their response to treatment, paving the way for personalised therapeutic strategies.