Germline Versus Somatic Testing: The Two Pillars of Genomic Testing

What has caused the rise in cancer is multifactorial. Number one is lifestyle. Number two is environmental insults like radiation and the kind of food we eat, and stress. But also underrated and underdiagnosed is genetics, and at least 30% of cancers are genetic, so we need to test to understand those cases.

CRISPR-Cas9 is a technology related to gene therapy that lets you edit the gene. CRISPR is gene editing, and the Cas9 technology is what lets us edit the gene, for example the gene causing type 1 diabetes mellitus, and deliver it back to the patient so the disease is cured. That is not yet available in all countries.

The most common genetic cancer, as it's the most commonly tested for, is breast cancer. Breast and ovarian cancer has a syndrome called hereditary breast and ovarian cancer syndrome, and that is the most common because it is right now the most tested for. However, there are many more cancers which can be inherited.

That is the most in-thing right now, which is longevity testing, which can tell you your actual biological age. Supposing you are 30 years of age by your date of birth, but because of stress your body may actually be 40 years old biologically. You can prevent that: we can first study why your body is aging faster, and then you can modify your lifestyle based on the genetics, what you should eat and what you should not eat and what kind of therapy you should take, and it gives you a lot of a personalised report.

For example, sickle cell anaemia is caused by a point mutation where only one letter in the genome is changing. So what we can do is if A is becoming B, we make the B back to A and edit that gene, and deliver it through an IV cannula in the form of a solution. That is what is going to get integrated into the patient, and the disease can be cured. That is what gene therapy is.

Somatic testing sequences DNA taken directly from the tumour to find the mutations driving that specific cancer. Germline testing looks at inherited genetic material present in every cell from birth, to assess hereditary risk to the patient and their family.

Yes. A mother's blood can be tested for fetal DNA to check whether the pregnancy carries a genetic abnormality.

Somatic testing identifies which targeted medicine is likely to work against the existing tumour, while germline testing establishes whether the patient's relatives also carry a hereditary risk that should be tested for separately.