The Patient Was…

Precision Medicine is a relatively recent term that is moving into the mainstream of the medical lexicon. It implies exactness, accuracy, and focus; it is an aspirational ideal.

Precision Medicine may be thought of as the right medicine, for the right patient, in the right dose, at the right time, for the right condition. It represents personalization of medical care, based on the most detailed information about an individual.

According to the Precision Medicine Institute, a government research program, Precision Medicine is an effort to tailor medical care to an individual’s genetic, environmental, and lifestyle factors.

It is important to understand that although Precision Medicine sounds like Personalized Medicine, and the two are related, the “personalized” concept implies there are unique characteristics about an individual shared by nobody else, and that these are figured into one’s care. Psychosocial and other phenomena are included, whereas Precision Medicine is more scientific and data-driven. In truth, we don’t know enough about any one individual in all of their characteristics and influences to really render personalized care at this time.  It is nigh impossible at this time to find, in a single individual, a gene malfunction that is shared by nobody else.

So, Precision Medicine is at present a form of group care, driven by shared data, mostly genetic in origin.

A simple example of Precision Medicine is blood typing. If you get a blood transfusion, the donor blood is matched to yours by so-called antigens, molecules on the surface of blood cells. These antigens can react to other molecules called antibodies, producing a dangerous immune reaction within your body. By matching the donor blood antigens with yours, transfusions are safe. Blood type antigens are entirely determined by genetics, the specific genes you inherit from your parents.

Most of Precision Medicine today is, in fact, based on genetics rather than on other factors.  And most of the genetic-based investigations are in the field of oncology, the area of medicine concerned with cancer.

Advances in analyzing the genome (the entire genetic makeup) of individuals, and the genetic characteristics of individual tissues, allows oncologists (cancer doctors) to identify specific genetic mutations or changes in the genes of cancer cells. Then, new techniques for manipulating the genetic environment can be applied to treating the cancer.

One of the genetically-based techniques used in cancer management is simply called Gene Therapy. This involves changing the genes within a cell either to prevent or treat disease. Defective genes can sometimes be replaced, and new genes can be introduced to help normal immune cells fight tumor cells.

A specific form of gene-altering therapy called CAR-T Cell Therapy involves changing some of your own immune system cells, called T-cells, so that they directly attack cancer cells. This type of gene therapy is especially useful in certain blood cancers, like leukemia and lymphoma.

Another form of genetic-based cancer treatment is called Gene Editing. This  technique  can add genes to an organism’s DNA, remove genes from the genome, or change the sequence of genes in strands of DNA. These changes can be made at precise locations in the genome of an individual or a cell.

Now, all of this sounds like really precise and personalized medicine. But it is important to remember a few things.

An article in the highly respected journal Nature notes that there are over 20,000 recognized genes in the human genome. More than 3,000 have been implicated in disease. The precise role of many genes in disease is unknown and much more research is needed.

It is important to recognize that a single gene can have many effects in the human body. So, manipulating a gene to treat cancer may have other effects as well, some not desirable. Altering the genetic makeup of an individual, especially the genes involving their immune system, may make the person more vulnerable to infections and other conditions that can be serious, even life-threatening. Also, there may be several genes affecting one disease, so altering or removing one gene identified in a cancer may not solve the problem.

While  most gene-based medical therapy is currently in cancer, heart disease also has a large genetic component. There are certain diseases of the heart and vascular system that are very heavily genetically determined. These conditions include forms of heart failure (heart muscle weakness), arrhythmias (disorders of the heart rhythm), and structural disorders or malformations of the heart and blood vessels. While some of these conditions are due to defects in a few identified genes, other genes not yet recognized may play roles. Drugs and devices have been developed that counteract the effects of the genetic abnormalities, but do not alter the genes themselves.

Some of the most common heart diseases, such as coronary heart disease, where cholesterol-laden plaques obstruct blood flow through the coronary arteries supplying blood to the heart muscle, have large genetically determined causes. But these can be modified by life-style changes and medications. Elevated cholesterol levels are heavily influenced by inherited genes, but drugs like statins and other medications can dramatically lower levels of cholesterol and other blood lipids (fats).

It is important to note that the techniques for genetic identification and manipulation are very complex and expensive. And the application to human patients is often difficult and success is by no means guaranteed. Drugs and devices that help treat diseases, whether those conditions are or are not genetically influenced, are not universally successful either, and adverse side effects may limit their usefulness.

It’s fair to say at this time that Precision Medicine is a work in progress, and it is still early in the game. Identification of more disease-causing genes, better techniques for gene manipulation, better drugs and devices for treating disease whether genetically determined or not, and clearer delineation of more patient characteristics are all part of the future of Precision Medicine.

Let us hope that the future is bright.Precision Medicine is a relatively recent term that is moving into the mainstream of the medical lexicon. It implies exactness, accuracy, and focus; it is an aspirational ideal.

Precision Medicine may be thought of as the right medicine, for the right patient, in the right dose, at the right time, for the right condition. It represents personalization of medical care, based on the most detailed information about an individual.

According to the Precision Medicine Institute, a government research program, Precision Medicine is an effort to tailor medical care to an individual’s genetic, environmental, and lifestyle factors.

It is important to understand that although Precision Medicine sounds like Personalized Medicine, and the two are related, the “personalized” concept implies there are unique characteristics about an individual shared by nobody else, and that these are figured into one’s care. Psychosocial and other phenomena are included, whereas Precision Medicine is more scientific and data-driven. In truth, we don’t know enough about any one individual in all of their characteristics and influences to really render personalized care at this time.  It is nigh impossible at this time to find, in a single individual, a gene malfunction that is shared by nobody else.

So, Precision Medicine is at present a form of group care, driven by shared data, mostly genetic in origin.

A simple example of Precision Medicine is blood typing. If you get a blood transfusion, the donor blood is matched to yours by so-called antigens, molecules on the surface of blood cells. These antigens can react to other molecules called antibodies, producing a dangerous immune reaction within your body. By matching the donor blood antigens with yours, transfusions are safe. Blood type antigens are entirely determined by genetics, the specific genes you inherit from your parents.

Most of Precision Medicine today is, in fact, based on genetics rather than on other factors.  And most of the genetic-based investigations are in the field of oncology, the area of medicine concerned with cancer.

Advances in analyzing the genome (the entire genetic makeup) of individuals, and the genetic characteristics of individual tissues, allows oncologists (cancer doctors) to identify specific genetic mutations or changes in the genes of cancer cells. Then, new techniques for manipulating the genetic environment can be applied to treating the cancer.

One of the genetically-based techniques used in cancer management is simply called Gene Therapy. This involves changing the genes within a cell either to prevent or treat disease. Defective genes can sometimes be replaced, and new genes can be introduced to help normal immune cells fight tumor cells.

A specific form of gene-altering therapy called CAR-T Cell Therapy involves changing some of your own immune system cells, called T-cells, so that they directly attack cancer cells. This type of gene therapy is especially useful in certain blood cancers, like leukemia and lymphoma.

Another form of genetic-based cancer treatment is called Gene Editing. This  technique  can add genes to an organism’s DNA, remove genes from the genome, or change the sequence of genes in strands of DNA. These changes can be made at precise locations in the genome of an individual or a cell.

Now, all of this sounds like really precise and personalized medicine. But it is important to remember a few things.

An article in the highly respected journal Nature notes that there are over 20,000 recognized genes in the human genome. More than 3,000 have been implicated in disease. The precise role of many genes in disease is unknown and much more research is needed.

It is important to recognize that a single gene can have many effects in the human body. So, manipulating a gene to treat cancer may have other effects as well, some not desirable. Altering the genetic makeup of an individual, especially the genes involving their immune system, may make the person more vulnerable to infections and other conditions that can be serious, even life-threatening. Also, there may be several genes affecting one disease, so altering or removing one gene identified in a cancer may not solve the problem.

While  most gene-based medical therapy is currently in cancer, heart disease also has a large genetic component. There are certain diseases of the heart and vascular system that are very heavily genetically determined. These conditions include forms of heart failure (heart muscle weakness), arrhythmias (disorders of the heart rhythm), and structural disorders or malformations of the heart and blood vessels. While some of these conditions are due to defects in a few identified genes, other genes not yet recognized may play roles. Drugs and devices have been developed that counteract the effects of the genetic abnormalities, but do not alter the genes themselves.

Some of the most common heart diseases, such as coronary heart disease, where cholesterol-laden plaques obstruct blood flow through the coronary arteries supplying blood to the heart muscle, have large genetically determined causes. But these can be modified by life-style changes and medications. Elevated cholesterol levels are heavily influenced by inherited genes, but drugs like statins and other medications can dramatically lower levels of cholesterol and other blood lipids (fats).

It is important to note that the techniques for genetic identification and manipulation are very complex and expensive. And the application to human patients is often difficult and success is by no means guaranteed. Drugs and devices that help treat diseases, whether those conditions are or are not genetically influenced, are not universally successful either, and adverse side effects may limit their usefulness.

It’s fair to say at this time that Precision Medicine is a work in progress, and it is still early in the game. Identification of more disease-causing genes, better techniques for gene manipulation, better drugs and devices for treating disease whether genetically determined or not, and clearer delineation of more patient characteristics are all part of the future of Precision Medicine.

Let us hope that the future is bright.