Genetic Profiling and Women’s Health

Genetic Profiling refers to analysing an individual’s genome (genetic content) to detect any genetic variation (mutation) which increases the likelihood of that person developing certain diseases like cancers, or traits for certain conditions like premature skin aging and skin allergies. According to a report published by the World Health Organisation in 2022, cancer was a leading cause of death worldwide, accounting for nearly 10 million deaths in 2020. Breast cancer was the most common cancer among women with over 2 million new cases diagnosed in the year. There are many risk factors and influences in the development of breast cancer and about 5% to 10% of breast cancers are thought to be related to gene variation (mutation) inherited from parents. The most common cause of hereditary breast cancer is the BRCA1 and BRCA2 gene mutation. On average, a woman with these gene mutations has a 7 in 10 chance of getting breast cancer by the age of 80. Furthermore, women who has one of the BRCA1 and BRCA2 has higher risk of developing Ovarian cancer, which is another common cancer occurring in women. Also, there is a gene mutation which is associated with Endometrial cancer that can be detected by genetic profiling.

It is important to know that genetic profiling is not intended to diagnose or treat any diseases but serves only to identify the risks of developing them. The reason is genetic mutation is not the only factor that influences the development of diseases. Nurture environment (up-bringing) and lifestyle choices (eg. Cigarette smoking and diets) are also factors that bring about disease progression. In another word, genetic profiling can only tell you your genetic predisposition and hence statistical likelihood that you are to develop a particular disease or trait. This’s the reason genetic profiling for breast cancer does not replace the need for periodic self-breast examination and regular screening like mammography.

At this point you may be wondering why bother doing genetic profiling while a negative result does not guarantee you will not develop the disease. Well, a person’s genes don’t change, they remain as what they are in your life, and knowing what’s in our genes can often help us decide how to take better care of our health.

Apart from detecting the gene mutations which can cause diseases, genetic profiling can also reveal the tendency of a woman to certain traits. For example, a woman found to have certain gene mutations responsible for premature collagen breakdown and antioxidant deficiency will likely to experience and show premature aging. Knowing if one carries that gene allows one to take early interventions in mitigating the development of that particular trait. In this case, one can start using a potent and effective antiaging skin care product early coupled with early precautionary lifestyle modifications.

We have moved into an era of preventive and regenerative medicine and genetic profiling has certainly become one of the mainstream components of this evolutionary field. All the different gene mutations mentioned above can be detected by performing a simple genetic profiling. The notion of “Treat only after diagnosis” has somewhat become less relevant as we can now to a certain extent “pre-empt” and “forecast” certain diseases so that preventative measures or treatments can be initiated early.