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GENETICS

It's in the headlines; have you noticed?

When you read or hear about precision medicine, personalized medicine, the BRCA gene, “23 and Me”, ancestry.com, DNA testing, and the Surgeon General’s Family History Initiative, it is really all about genetics. 

What should we know in order to truly understand genetics in the news?
Definitions help. Definitions sound so basic, which makes sense;
they are the building blocks of understanding.
Some definitions to know:
  1. GENETICS is the study of patterns of inheritance with the gene acting as the basic functional unit of heredity.
  2. PRECISION MEDICINE AND PERSONALIZED MEDICINE are often used interchangeably. The National Institutes of Health (NIH) states precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” As genetics knowledge advances, treatment for disease can be customized.
  3. GERMLINE MUTATIONS are changes in your genes that are present in all of your cells and can cause familial cancers, which represent about 10% of cancer cases. These mutations can be passed down to your children and grandchildren. 
  4. SOMATIC MUTATIONS are changes in your genes that happen in only some cells that can cause sporadic cancers, which represent about 90% of cancer cases. These are not passed down to family members.
  5. DOMINANT vs RECESSIVE GENES - You have two copies of every gene in your body. One from your mother and one from your father. Dominant genes mean that a specific trait will show up if only one of these genes are inherited or mutated. Recessive genes mean that a specific trait will show up only if both of the genes are inherited or mutated. If you only inherit one, you will be a "carrier", but not be affected by that gene.  
  6. PENETRANCE describes how likely a person with a mutation is to get the disease. Not all mutations are equal. Some cancer-causing mutations may have a 40% penetrance, meaning 40% of people who carry that mutation will get cancer and 60% will not. Others have 100% penetrance, meaning that everyone who carries that mutation will get cancer. This is why it is important that patients speak with a qualified genetic counselor so they can understand their risk and make informed choices.

What about Genetic Counselors?

Who are they and what do they do?

Genetic counselors are professionals with advanced training in genetics and counseling. They help patients understand their risk for inherited disease.

  • interpret and explain genetic test results
  • advise on appropriate follow-up for patients who may be at increased risk for inherited disease but do not wish to undergo genetic testing
  • keep up to date with the research and guidelines related to genetic testing
  • are the go-to resource for physicians who do not specialize in genetics
  • are trained to take into account patient concerns related to genetic testing
  • help patients make their own decisions about genetic testing

Where do genetic counselors work?
They work in genetics clinics, cancer and prenatal clinics, large medical centers, university hospitals and molecular pathology laboratories.
They also do research, teach in universities, and have roles in public health.

InheRET™, empowering individuals to accurately identify their risk for hereditary conditions.

If you are interested in learning more about InheRET™, please Contact Us

Email: support@inheret.com
Phone: (866) 464-3738

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