Gene testing, innovation with promise to transform healthcare

Gene testing, innovation with promise to transform healthcare

From the groundbreaking discovery of the scientific principles behind inheritance by the German-Czech biologist and Augustinian friar, Gregor Mendel, in the 19th century, much research has been undertaken on the application of genes in various fields.

Genes, according to the National Human Genome Research Institute, are considered as basic units of inheritance. They are passed from parents to offspring and contain the information needed to specify physical and biological traits.

Most gene codes for specific proteins, which have differing functions within the body, and humans have been said to have approximately 20,000 protein-coding genes.

On the other hand, a genome is the complete set of genetic information in an organism. It provides all of the information the organism needs to function.

Through the integration of modern technology and biology, complete genome sequences and large biological data sets have been developed to detect rare and common human diseases as well as genetic conditions that run in families.

Through genetic testing, people can now learn whether they have a genetic condition that runs in their family before they have symptoms.

They can also detect if a current or future pregnancy will have a genetic condition and diagnose a genetic condition if their child is showing some symptoms.

On its website, a Nigerian private laboratory, Synlab, explained that most diseases or medical conditions are influenced by genetic conditions.

It added, “Genetics plays an important role in health and the development of disease. It is estimated that three to seven per cent of the general population carry a recognised genetic disorder.

“Most diseases or medical conditions (except trauma) have a genetic component or are influenced by genetics. Understanding genetic factors and genetic disorders is important in learning more about promoting health and preventing disease.”

Through the help of digital technology, a web-based tool, Family Healthware, has been designed for family members to assess their risks for six diseases.

A study published by the United States Centres for Disease Control and Prevention explained that Family Healthware was developed by a multi-disciplinary team with expertise in clinical genetics, behavioural science, health communication, preventive medicine and epidemiology, with support from a major commercial communications firm and a software development company.

The study said, “Family Healthware is a web-based research tool that can be used to assess a person’s familial risk for six diseases: heart disease, stroke, diabetes, colorectal cancer and ovarian cancer.

“It provides users in research studies with a ‘prevention plan’ containing personalised recommendations for lifestyle changes and screening. For each person, the tool collects data about the following: Health behaviours (e.g., smoking and physical activity), screening tests (e.g., blood cholesterol and mammography), health history among his or her first- and second-degree relatives

“One set of algorithms in the software analyses users’ family history data and assesses the user’s familial risk for each of the six diseases. A second set of algorithms uses the data on familial risk, health behaviours, and screening results to generate personalised prevention messages.”

Three academic research centres at the University of Michigan School of Medicine, Evanston Northwestern Healthcare Research Institute, and Case Western Reserve University School of Medicine evaluated this software.

After a peer-reviewed study in 2005 and 2007, they reached a number of findings, which indicated that 82 per cent of participants had strong or moderate familial risk for at least one disease.

The researchers also found that there was “underreporting of paternal family history and lower perceived breast cancer risk if in the paternal lineage, increase family health history intervention with daily fruit and vegetable consumption and physical activity.”

A biomedical scientist, Mike Ikechukwu, told Sunday PUNCH that there are different types of genetic testing.

He explained that these tests look for mutations or variants in people’s DNA and are important tools in the practice of medicine.

He said, “Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives.

“Now, there are many different kinds of genetic tests but they are generally conducted using a blood or spit sample and results are usually ready in a few weeks. Family members share the same DNA, so if you are found to have a genetic change your family members may also have the same change.

“There are clinical genetic tests and there are also Direct-to-Consumer genetic tests, which can provide some information about medical and non-medical traits. While these clinical genetic tests are ordered by doctors for a specific medical reason, the DTC tests are usually purchased by healthy individuals who are interested in learning more about traits like ancestry, responses to medications, or risk for developing certain complex conditions.”

Ikechukwu added that while DTC test results could help individuals make decisions about their lifestyle choices, they cannot definitely determine whether or not they will get a disease. He advised that they should not be used alone to make decisions on medical care.

Another type of gene testing is single gene testing which looks for changes in only one gene. This test is often required when a doctor believes that an individual or their child has symptoms of a specific condition or syndrome.

According to the CDC, “Some examples of this syndrome are Duchene muscular dystrophy or sickle cell disease. Single-gene testing is also used when there is a known genetic mutation in a family.”

Panel testing is also a genetic test that examines various genes at once to detect health risks.

“A panel genetic test looks for changes in many genes in one test. Genetic testing panels are usually grouped into categories based on different kinds of medical concerns. Some examples of genetic panel tests are low muscle tone, short stature or epilepsy.

“Panel genetic tests can also be grouped into genes that are all associated with a higher risk of developing certain kinds of cancer, like breast or colorectal (colon) cancer,” says Medline Plus, a government healthcare website.

A biotechnologist, Mrs Funke Olopade, explained that another genetic test that is often used is large-scale genetic or genomic testing.

She said, “These large-scale genetic tests are used to detect genetic association like a predisposition towards a rare heart condition or when a genetic diagnosis is required to explain a child’s developmental disabilities.”

She further explained that genetic tests can test positive which indicates that the test has detected a genetic change known to cause a disease. It could also test negative which implies the test did not find a genetic change known to cause disease.

She added, “Not all negative genetic test results are accepted at face value. There are times when a negative result occurs when the wrong test was ordered. But if it is truly negative, it means there is a known genetic change in the family and the person tested did not inherit that disease.

“A test result can also be uncertain which means there isn’t enough information about that genetic change to determine whether it is normal or disease-causing.”

A biotechnological technologist in Lagos, Chuks Azubuike, in an interview with Sunday PUNCH, commended the great strides that have been made in genetic technology. However, he expressed doubts that it could be sustained.

“There are innovations that have been made in the field of biotechnology which have contributed immensely to healthcare and the Healthware software is simply one of it, but here in Nigeria, it is doubtful if these things can be sustained.

“First, we have energy crisis. You can’t maintain a biotechnological laboratory with intermittent power supply as we have in the country. If the power sector is fixed, it will be a boost in the area of technology.

“Second, many of the biotechnological tools and gene testing equipment are very expensive and once they develop a fault, you might need to take them out of the country to replace their parts or repair them, and this is as expensive as purchasing new ones.”

Third, he said there was a need for more training and technological know-how, noting that with more technical and professional know-how, starting from the university level, it would help.