Genome Warning Signs: Understanding Genetics through Precision Medicine

Genetics influences all human characteristics, including our susceptibility to certain complex diseases such as cancer. Looking at diseases with a more granular perspective allows medical professionals to target unhealthy cells in the body for more customized, and therefore, more effective treatments. Precision medicine has put a spotlight on genetics and the genome, revealing in detail how targeted treatments are transforming lives and healthcare.

Identifying and Preventing Diseases

Diagnosing Genetic Diseases

Precision medicine focuses on genetics, and it has been able to detect genome warning signs that eventually cause diseases. Researchers discovered that children with intellectual disabilities have genetic damages on particular proteins required for normal functioning. Genome sequencing has been able to identify up to 60% of the affected genes, providing doctors and even parents a closer look into the disability. This will also allow for a more specific diagnosis. Parents will have more confidence to have children as some genetic disorders can be prevented through IVF. The UK National Health Service announced recently its 100,000 Genomes Project that will use genome sequencing to determine causes in cases of severe unexplained disabilities. Using genome sequencing for preconception screening will potentially reduce the number of genetic disorders.

Use of Genome in Cancer Diagnosis and Treatment

Cell mutations cause cancer, but traditional tests cannot distinguish which of these mutations are accelerating it. The drug imatinib is a product of precision medicine. It is an oral treatment for certain types of cancer. It blocks the cancer cells from signaling with each other, essentially stopping the mutations before they continue to spread. When patients are informed of their conditions on a molecular level, they can be accurately prescribed drugs that cater to their specific cancer.

Analyzing an individual’s genome can also predict their risks of getting cancers. A recent study of people considered predisposed to cancer had an MRI and showed that 10% already had tumors that were yet to show symptoms. Through precision medicine, doctors can treat cancer before it spreads.

Prescriptions

Most medications treat and cure diseases, but these are not always effective. Some are even harmful to the patients receiving them. For one thing, everyone has liver enzymes that clear chemicals from the bloodstream, which affects the concentration of these chemicals and how long they will last in the system. By making medication more personal and targeted, there will be less incidences of wrong prescriptions. People can medicate better and save time and money.

Diverse data

Medical records can incorporate patents’ biomedical information from patients. Medical researchers can mine these records to further bolster their studies. These would then aid medical professionals in profiling diseases and people. Patients can get better strategies for treatment that thoroughly address their medical conditions.

Growing Genetic Diversity

Precision Medicine testing helps genome testing in patients
Precision medicine: genomic testing helps patients

Drug companies are heavily investing in precision medicine as more and more people are developing more complicated genetics. Birth rates of multiethnic children are rising every year. Fourteen percent of children born in the US in 2015 were from multiracial or multiethnic backgrounds, which is three times higher than for those born in the 1980s. This adds an entirely new dimension in genomics that still needs to be explored as race and ethnicity can be investigated to determine ailment predisposition. Biomarkers, substances that suggest the susceptibility to infections or diseases, are found in different groups of people. Similarly, how fast the body metabolizes drugs varies among black, Asian, and white patients. Understanding people’s predispositions is the key to more effective medication, treatment, and drug innovations.

As people develop more multifaceted genetics, there is a more urgent need to understand genetics and the genome through precision medicine. This would help medical professionals provide more reliable prognoses and accurately prescribe medication. And once this has become the norm in the medical world, we can expect better health management and a higher quality of life for billions of people worldwide.

 

Sources: www.healthcareitnews.com, www.theconversation.comwww.bna.com

 

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