Personalized, Preventive, Precision Healthcare

 Take advantage of the Human Genome Project completed in 2003 that took 13 years at a cost of three billion dollars.

Researchers mapped the entire human genetic code, discovering that every human cell is packed with an estimated 20,000 to 30,000 genes permitting individualized analysis based on each person’s genetic code. In short, it enabled powerful form of preventive, personalized and preemptive medicine.

By tailoring recommendations to each person’s DNA, health care professionals can work with individuals to focus efforts on specific strategies that are most likely to maintain health for that particular individual, and in some cases their family as well.

Hereditary Cancer Assessment. For those of us with a family history of a certain conditions or diseases, getting a DNA assessment before we have symptoms may show if we're at risk of developing that condition. For example, this type of test may be useful for identifying whether or not we and/or our family are at higher risk of hereditary colorectal, prostate, breast, ovarian, pancreatic or other cancers.

Pharmacogenomics is a DNA assessment that looks at how genetic variation affects our individual response to a medication. This science combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to help doctors select the drugs, combination of drugs, and doses best suited for us as individuals, based on our genetic makeup.

For example, on an individualized basis, pharmacogenomic tests can identify the most effective blood-thinner or anti-depressant and their dosages, or if codeine will in fact metabolize to morphine, which it must do to be an effective pain mitigator.

What is a Gene?

A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins. 

Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes are slightly different between people. These small differences contribute to each person’s unique physical features. 

Scientists keep track of genes by giving them unique names. Because gene names can be long, genes are also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent an abbreviated version of the gene name.

What is a Gene Mutation?

A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. 

Genetic disorders are caused by the mutation of a gene. Gene mutations can be classified in two major ways:

By tailoring recommendations to each person’s DNA, health care professionals can work with individuals to focus efforts on specific strategies that are most likely to maintain health for that particular individual, and in some cases their family as well.

• Acquired (or somatic) mutations occur at some time during a person’s life and are present only in certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun or can occur if an error is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed to the next generation.

• Hereditary mutations are inherited from a parent and are present throughout a person’s life in virtually every cell in the body. These mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells.

Some of the Genes We Assess For Mutations And Why We Do

Hereditary verses Sporadic Cancer

Cancer is a common disease, so most families will have some members who have had cancer. This means even if cancer does not run in a family, a family member can still be at risk for some type of cancer in his or her lifetime.

Sporadic cancer and hereditary cancer differ in several ways that may affect health care decisions:

Hereditary cancers are caused in part by gene mutations passed on from parents to their children. Other blood relatives may share these same gene changes. Sporadic cancers are believed to arise from gene damage acquired from environmental exposures, dietary factors, hormones, normal aging, and other influences.

Hereditary cancers often occur earlier than the sporadic form of the same cancer, so experts often recommend different screening, at a younger age for people with a gene mutation or hereditary cancer in their family.

Hereditary cancers can sometimes be more aggressive than the sporadic form of the same cancer. For example, hereditary prostate cancers tend to be more aggressive and more likely to spread than sporadic prostate cancers. 

Hereditary cancers may respond to different treatments than sporadic cancers. For example, PARP inhibitors are drugs that were designed to treat cancers associated with BRCA mutations. The agent Keytruda has been approved for treating cancers in people with one of the mutations that causes Lynch Syndrome. 

Individuals who have inherited a gene change may be at a higher risk for more than one type of cancer. For cancer survivors, this may affect cancer treatment options, prevention, or follow-up care.

"Hereditary cancers” are those caused by an inherited gene mutation that increases the risk for one or more types of cancer. "Hereditary Breast and Ovarian Cancer Syndrome" (also known as HBOC) is most commonly caused by mutations in one of two genes: BRCA1 and BRCA2. These mutations increase the risk for breast, ovarian, pancreatic, prostate, melanoma and possibly other cancers.

People with the following personal or family history should discuss the possibility of genetic testing with a genetic counselor: 

If you or a relative have had any of the following:

• ovarian, fallopian tube, or primary peritoneal cancer
   

• breast cancer at age 50 or younger
   

• two separate breast cancers
   

• a type of breast cancer called “triple negative breast cancer”
   

• male breast cancer
   

• pancreatic cancer
   

• prostate cancer at age 55 or younger or metastatic prostate cancer (cancer that spread outside the prostate)
   

• Eastern European Jewish ancestry and any of the above cancers at any age

Or, if more than one family member on the same side of your family has had:

• breast cancer
   

• ovarian, fallopian tube, primary peritoneal cancer
   

• prostate cancer
   

• pancreatic cancer  

Early Cancer Detection is Critical

Whether you have cancer, had cancer, or have no current symptoms, this simple very important DNA assessment can identify if YOU have hereditary cancer genes putting you and your family at high risk of getting one or more of these cancers.

Can Cancer be Prevented?

Most experts are convinced that many cancers can either be prevented or the risk of developing cancers can be markedly reduced. Some of the cancer prevention methods are simple; others are relatively extreme, depending on an individual's view. 

Cancer prevention, by avoiding its potential causes, is the simplest method. First on most clinicians and researchers list is to stop (or better, never start) smoking tobacco. Avoiding excess sunlight (by decreasing exposure or applying sunscreen and many of the chemicals and toxins are excellent ways to avoid cancers. Avoiding contact with certain viruses and other pathogens also are likely to prevent some cancers. People who have to work close to cancer-causing agents (chemical workers, X-ray technicians, ionizing radiation researchers, asbestos workers) should follow all safety precautions and minimize any exposure to such compounds.

People with a genetic predisposition to develop certain cancers and others with a history of cancers in their genetically linked relatives currently cannot change their genetic makeup.  However, some individuals who have a high possibility of developing genetically linked cancer can take actions to prevent cancer development.

Screening tests and studies for cancer are meant to help detect a cancer at an early stage when the cancer is more likely to be potentially cured with treatment. Such screening studies are breast exams, testicular exams, colon-rectal exams certain blood tests, prostate exams, urine tests and others.

People who have any suspicion that they may have cancer should discuss their concerns with their doctor as soon as possible. An individual patient's unique personal and family circumstances should always be considered by doctors in making recommendations about ordering or not ordering screening tests.

Why Take a Hereditary Cancer Test?

Because the genes we are born with may contribute to our risk of developing certain types of cancer, some people are genetically predisposed, and therefore, although they may not necessarily get cancer, they have a higher risk of developing the disease than those in the general population.

For example, a BRCA1 mutation can increase a woman’s chance of breast cancer up to 81% by age 80.  An APC gene mutation can increase a man or woman's chances of colorectal cancer up to 70-100% by age 80 without surgical intervention.

Statistics support that if diagnosed in stage one, breast cancer has 99% five-year survival rate, and colorectal cancer has a 92% five-year survival rate, if diagnosed in stage 4, their five - year survival rates respectively are 22% and 11%.

Additionally, these mutations are usually inherited from one or both of the person’s parents and are present in nearly every cell of the body. Because hereditary mutations are present in the DNA of sperm and egg cells, they can be passed down in families.

Throughout our chromosomes, of which we inherit 50% from our mother, and 50% from our father, are approximately 25,000 genes, which are functional units of DNA. Our cells use genes to make proteins and other substances that are necessary for life. In some genes, changes in the DNA called mutations have been linked to cancer.

Cancer may arise as a natural consequence of aging or when a cell’s DNA has been damaged. Such acquired mutations are only present in some of the body’s cells, and they are not passed on from parents to their children.

However, with the advent of the Human Genome Project, scientists have determined, through genetic DNA assessment, how to identify a number of hereditary mutations that can contribute to an individual’s risk of developing certain cancers, including breast, ovarian, colorectal, and prostate, as well as some other, less common cancer types.

Hereditary genetic DNA assessment involves a simple saliva test whose results will provide a more precise evaluation of your hereditary cancer risk. Our scientific test, overseen by highly trained molecular geneticists, utilizing the most advanced technology, produces medically actionable results. Additionally, hereditary disorders run in families, so your results could help your loved ones develop their own personalized risk assessment plan.