Healthcare is evolving.  For thousands of years a diagnosis was made on the symptoms of the malady displayed by the patient. And for thousands of years, we have been treating patients with broad therapies aimed at the constellation of symptoms.

Over the past two decades healthcare been evolving to a new era of ‘precision medicine’ where treatments are fashioned based on the unique genomic and phenomic signatures of the patient. As a result, cancers may no longer be treated by organ type and location (eg Colorectal, Prostate, Breast) but rather by cancer genomic subtype. This means that treatments will become more nuanced and personalized. Indeed, we may eventually see each patient being treated with a unique drug or therapeutic combination unique to their own disease. In this way medicine is very much becoming personalized.

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Precision medicine, or personalized medicine, is an approach to healthcare that takes into account an individual’s unique genetic makeup, lifestyle, and environment to diagnose and treat disease. Personal genomic testing is a key tool in precision medicine that enables healthcare providers to better understand a patient’s genetic profile and tailor their treatment accordingly.

Personal genomic testing involves analyzing an individual’s DNA to identify variations in their genetic code that may impact their health. This can be done through various methods such as whole-genome sequencing, whole-exome sequencing, or targeted sequencing of specific genes.

Once the genetic data is obtained, it can be analyzed to identify specific genetic variants associated with disease or drug response. This information can then be used to inform treatment decisions, such as choosing a medication that is most likely to be effective based on the patient’s genetic profile or determining the most appropriate dose of a drug.

Personal genomic testing can also be used to identify individuals who are at increased risk for developing certain diseases, such as breast cancer or heart disease, allowing for earlier detection and intervention.

Fundamentally, personal genomic testing is a powerful tool that can provide valuable information to healthcare providers and patients, allowing for more precise and personalized healthcare.

GERMLINE VERSUS TUMOR DNA – what’s the difference?

Germline DNA and tumor DNA are two types of genetic material that differ in several important ways:

Location: Germline DNA is found in every cell of an individual’s body and is inherited from their parents. It contains the genetic information that determines an individual’s traits and characteristics. Tumor DNA, on the other hand, is found only in cancer cells and is the result of genetic mutations that occur within those cells.

Stability: Germline DNA is relatively stable and remains unchanged throughout an individual’s life. In contrast, tumor DNA is highly unstable and prone to frequent mutations, which can lead to cancer cells acquiring new properties such as uncontrolled growth and resistance to chemotherapy.

Inheritance: Germline DNA is passed down from parents to offspring and can be used to identify inherited genetic conditions. Tumor DNA, on the other hand, is not passed down and is specific to the individual tumor.

Medical significance: Germline DNA is important in predicting an individual’s risk for certain diseases and in determining their response to certain medications. Tumor DNA is important in diagnosing and monitoring cancer, as well as identifying specific genetic mutations that can be targeted with precision medicine treatments.

Effectively, Germline DNA is the genetic material that an individual inherits from their parents and is found in every cell of their body. Tumor DNA is specific to cancer cells and is the result of genetic mutations that occur within those cells. While Germline DNA is relatively stable and has important medical implications, tumor DNA is highly unstable and plays a critical role in the diagnosis and treatment of cancer.

What will Precision medicine be like in five years’ time?

While it’s hard to predict exactly how precision medicine will evolve, we do know that a number of developments are likely based on current trends and advancements in the field. Here are some potential ways precision medicine may play out over the next five years:

Increased use of genomic sequencing: Genomic sequencing is becoming increasingly affordable, and its use in precision medicine is likely to continue to grow. This will enable healthcare providers to tailor treatments based on a patient’s specific genetic makeup.

Integration of AI and machine learning: Machine learning algorithms are being developed to analyze large sets of patient data, including genomic information, electronic health records, and medical imaging. These tools could help identify patterns and predict disease outcomes more accurately.

Development of more targeted therapies: With a better understanding of the genetic and molecular mechanisms behind diseases, more targeted therapies could be developed that are tailored to individual patients.

Greater emphasis on prevention: Precision medicine will likely continue to shift the focus of healthcare towards prevention rather than treatment. By identifying and addressing risk factors early, providers can help patients avoid disease altogether.

Expansion of precision medicine to new areas: Precision medicine is currently being used primarily in the treatment of cancer and rare genetic diseases, but it is likely to expand to other areas of healthcare, such as cardiovascular disease and mental health.

Overall, precision medicine is an exciting and rapidly developing field, and it’s likely that we will see significant advancements in the coming years.