Disease prevention via genetic testing

There are those who are afraid to go to a doctor because they do not want to know what’s wrong with them.

But there are those who want to know even before the disease sets in.

As reported in curetoday.com, “genetic testing is on the rise among women who believe they are at high risk for breast cancer – a trend that has been dubbed the ‘Angelina Jolie effect’ because it occurred after the actress’ public disclosure of her BRCA status and her decision to remove her breasts, which was followed two years later by the elective removal of her ovaries and fallopian tubes.” Jolie’s mother, sister and aunt had ovarian cancer.

There is a budding comedian by the name of Caitlin Brodnick, curetoday.com said, who like Jolie underwent prophylactic double mastectomy after learning that she carried a BRCA mutation.

“For years, Caitlin Brodnick ignored her father’s pleas that she undergo testing for the BRCA1 and BRCA2 gene mutations that are associated with a high risk of breast and ovarian cancer. Brodnick was all too aware of the cancer history on her father’s side of the family – the aunt who died of breast cancer at age 32, the grandmother who lost her life to the same disease, not to mention another aunt who died of pancreatic cancer – but she was too terrified to learn about her own risk. Finally, at age 26, Brodnick gave in and made an appointment with a genetic counselor. Turned out her fears were warranted. She tested positive for mutated BRCA1,” it said.

According to a cnn.com report, there is genetic testing for other cancers, such as colon, endometrial, and pancreatic, for autism, for some forms of heart diseases, and even for Alzheimer’s and Parkinson’s disease. The same report quoted the NIH Generic Testing Registry as saying there are 26,000 genetic tests available for 5,400 conditions.

Soon, Filipinos WILL be able to walk into a facility here, have one’s DNA tested and sequenced or undergo what is called genetic testing, and then be able to find out to what diseases one is predisposed to.

As explained by local company Philab Industries in its website, genetic testing is a type of medical test that identifies changes in the genes that may play a role in disease development. Genetics determines, understands and cures a wide array of diseases with complicated pathologies, especially those passed on from parents to their offspring or descendants, it said.

According to Philab: “Genetic testing can detect certain mutations that can play a role in the onset of disease formation for high risk individuals. Genetics allows an individual to make informed decisions in personal healthcare monitoring and management. Genetic testing provides an option to disease management. Diagnosis of any disease can lead to emotional, financial and psychological burden and genetic testing narrows down the option of disease classification leading to simpler and cheaper treatments with increased chances of survival.”

“Genetic testing provides a sense of relief from uncertainty. The result of a genetic test may confirm or rule out a suspected hereditary disease, or help determine a person’s chance of developing or passing on a hereditary disorder,” it added.

Philab’s chairman, president and CEO Hector Thomas Navasero spearheaded the establishment and operations of the Genomic Institute of Asia (GINA), a non-profit research organization that conducts genomic sequencing services currently housed within the IRRI compound in Los Baños, Laguna.

According to the company’s website, GINA is Navasero’s legacy to the scientific field that ultimately saved the life of his mother, Sylvia, from an aggressive form of breast cancer. Sylvia needed to undergo genomic sequencing to avail of the clinical trial of a treatment that ultimately saved her life.

The website explained that Philab, through and in partnership with GINA, is one of the first in the Philippines to own and operate a genomic sequencing facility offering full genome sequencing and molecular diagnostics for research and medical purposes.

“The company funded all the necessary equipment, personnel and initial operations of GINA. In 2013, GINA launched the first domestic testing of breast cancer mutations, BRCA 1 and BRCA 2, prevalent in Filipino women, the findings of which were used to detect the probability of breast cancer and became a rich databank for breast cancer research on Filipino women and will be useful in future cancer research. Realizing the potential of genomics, with its vast significance in life science research and an increase clinical application, genetic sequencing is geared towards fighting against infectious diseases and non-infectious diseases,” it pointed out.

As explained by Philab, researchers can use DNA sequencing to search for genetic variations and/or mutations that may play a role in the development or progression of a disease. The disease-causing change may be as small as the substitution, deletion, or addition of a single base pair or as large as a deletion of thousands of bases.

“Virtually every human ailment has some basis in our genes. Until recently, doctors were able to take the study of genes, or genetics, into consideration only in cases of birth defects and a limited set of other diseases. These were conditions, such as sickle cell anemia, which have very simple, predictable inheritance patterns because each is caused by a change in a single gene.

“With the vast trove of data about human DNA generated by the Human Genome Project and other genomic research, scientists and clinicians have more powerful tools to study the role that multiple genetic factors acting together and with the environment play in much more complex diseases. These diseases, such as cancer, diabetes and cardiovascular disease constitute the majority of health problems in the United States. Genome-based research is already enabling medical researchers to develop improved diagnostics, more effective therapeutic strategies, evidence-based approaches for demonstrating clinical efficacy, and better decision-making tools for patients and providers.

“Ultimately, it appears inevitable that treatments will be tailored to a patient's particular genomic makeup. Thus, the role of genetics in health care is starting to change profoundly and the first examples of the era of genomic medicine are upon us.”

Philab plans to establish the Asian region’s first ever genome facility in the Philippines and work closely with medical professionals and institutions in helping determine potential health threats a person may be predisposed to.

It explained that through genomic sequencing, a map of the person’s genome would be produced which could guide not only the doctors in helping prevent the disease or administer a cure before it gets worse, but also the person in identifying what kind of diet and exercises would be best suited given his or her genomic sequence.

Philab has reportedly acquired two genomics sequencing machines (NovaSeq6000) from market leader Illumina. The machines will be located at the planned genome facility in Clark, Pampanga, the first genome hub in Asia.

The company is also into self-test kits, beginning with the delivery of one million dengue kits to the DOH last year, followed by having the test kits commercially available soon. There is talk that Philab is developing self-test kits for chikungunya and malaria.

For comments, e-mail at [email protected]