Genetic Testing Vs. Genomic Testing - Differences and Benefits

by Jane Ashley

Once we are diagnosed with cancer, we begin to hear words that we haven’t heard before. Often, we don’t understand their meanings — but it’s important to learn as much as we can about the disease we have.

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We may have heard about genetic testing and genomic testing on television. Some famous people, including Angelina Jolie and Kelly Osbourne, have been responsible for many of us hearing the words — “genetic testing” — for the first time. Both of these women tested positive for the BRCA1 gene after seeking genetic testing because of a family history of cancer.

Researchers continue to learn more each year about the complexity of the changes that occur within our bodies where healthy cells experience changes turning them into cancerous cells. Not only can cancer run in families and be inherited, mutations may occur within our cells throughout our lifetime and may result in the development of cancer.

Newer treatments target genetic changes in cells. And new tests are being developed to detect and identify mutations.

What are the differences between genetic testing and genomic testing? Although these words sound similar, these are two different kinds of testing.

What is genetic testing?

Genetic testing examines the genes we inherit at birth. Genes pass from generation to generation. Genes control our eye, hair, height and skin color as well as tendencies to develop certain diseases, including cancer.

Genomic Testing

Patients and family members who have a family history of cancer should talk to their doctors about genetic testing. How do you determine if your family history might put you at risk? The more first-and-second degree relative who have had cancer, the more risk. First-degree relatives are children, parents and siblings. Second-degree relatives are grandparents, aunts and uncles along with nieces and nephews.

You might be at increased risk for cancer if you have one or more first-or-second degree relatives with the following diagnosis details:

• Diagnosed before age 50
• Rare kind of cancer, like sarcoma or male breast cancer
• Same kind of cancer
• Two or more kinds of cancer in the same relative
• The BRCA1 or BRCA2 mutation
• Lynch Syndrome

What is genomic testing?

Genomic testing is a relatively new field that examines entire set of genes (over 25,000) with over 3 billion DNA units. This testing looks at all of our genes, searching for ones that have experienced harmful changes (aka mutations).

Dna Changes

Cancer occurs when healthy cells change into cells that grow out of control, either growing tumors or crowding out healthy cells in our bloodstream or bone marrow. The changes occur mostly in our cell’s DNA. These mutations are the reason that normal cells turn into cancerous cells. These changes occur over our lifetime and are not passed on to our children.

The reasons for mutations are complex and not fully understood. Sometimes, it’s a copying error as cells divide and multiply. Think about making a copy of a copy and then making a copy of that copy. Over time, the quality of the copy degrades. Other times, exposure to chemicals, tobacco, air pollution, too much time in the sun or “bad luck” cause the mutations. Some of these mutations are present in a large population of cancer patients — new targeted therapies focus on these mutations preventing further growth of new cancer cells and causing the existing cancer cells to die.

This testing can be performed on a biopsy sample of a solid tumor or from a blood sample. Genomic testing results help guide treatment choices for many patients. Genomic testing also includes looking for inherited mutations. The newer, targeted therapies and immunotherapy drugs work when certain biomarkers or other DNA changes are present. Genomic testing also helps predict treatments that won’t work.
Which patients should have genomic testing?

Liquid Biopsy

The field of genomic testing and its part in treatment decision is new and changing almost daily as more kinds of cancer are approved for the newer targeted therapies and immunotherapies. Recommendations vary from facility to facility because this is an emerging field of medicine, commonly referred to as personalized medicine. A patient’s genomic profile helps patients learn which clinical trial options are available to them.

These are some of the kinds of cancer and situations where genomic testing may be recommended. Talk to your medical team if genomic testing will help find better options for treating your particular situation.

• Solid tumor cancers, including breast, colorectal, non-small cell lung cancer, melanoma and ovarian
• Blood cancers (also called hematologic malignancies) and sarcomas
• Rare cancers
• Metastatic (Stage IV) and Stage III cancers
• Patients seeking to enroll in clinical trials.

Experts recommend genomic testing for advanced solid tumor cancer and at diagnosis for blood cancers and sarcomas.
Are these tests covered by insurance?

Genetic counseling is usually covered by insurance. If your medical team orders genetic testing, your insurance should pay for it. Your medical facility will probably appeal on your behalf if you are denied.

Genomic testing is cutting edge science. On March 16, 2018, the Centers for Medicare and Medicaid Services (CMS) announced that Medicare would start paying for some FDA-approved genomic testing. Medicare Advantage plans will also provide coverage for beneficiaries who meet eligibility requirements. Coverage by private insurance companies varies by company and state of residence. For patients not covered by insurance, financial aid is available.

Foundation Medicine, Next Generation Sequencing (NGS), Genomic Health, Inc., Guardant Health and Myriad Genetics are among those covered by Medicare and Medicare Advantage and some private insurance companies.

WhatNext?

Personalized medicine is becoming more common now that genomics testing is reliable and widely available and covered by insurance. If you are a Stage III or Stage IV solid tumor cancer patient, a breast cancer patient of any stage or have blood cancer or sarcoma, ask your oncologist about genomics testing. It could save your life.

Do you have experience with genetic or genomic testing? Please leave a comment below describing it. 

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