To understand what might be causing your knee pain, it’s helpful to get a better understanding of the anatomy of our knees. The knee is one of the largest, most complex joints in the body. It is made up of four bones: the femur, the tibia, the fibula, and the patella. The muscles that support the knee are the quadriceps in the front of the knee and the hamstrings in the back. These structures are connected through an intricate network of ligaments and cartilage. The anterior cruciate ligament (ACL) prevents the femur from moving backwards onto the tibia, and the posterior cruciate ligament (PCL) prevents the femur from sliding forwards. There are two collateral ligaments, medial and lateral, that also help to provide support. The meniscus (lateral and medial) is tissue that sits between the femur and the tibia, providing ease of movement between the two bones. There is also articular cartilage that sits behind the patella. Finally, the knee is surrounded by bursae, fluid-filled sacs that help to cushion the knee joint.

While the most common forms of genetic testing are related to ancestry, genealogy or life threatening illnesses, there are many uses for genetic tests.

In the three decades since the start of genetic testing for health screenings there are now forms of the test that can even identify genes that cause allergies or conflicts with prescription medications.

Now genetic tests can even be used to identify conflicts with prescription medications that can lead to negative side effects. This form of genetic testing is know as pharmacogenetics (PGx).

What Exactly Is Pharmacogenetics?

Pharmacogenetics is also known as pharmacogenomics. This test is different from genetic tests that identify illness or disease with little to no signs or symptoms.  This test instead identifies genes in DNA that can have adverse side effects to a specific medication. This test helps identify how safe and effective a particular drug could be in relation to an individual’s DNA.

These tests are highly beneficial for anyone who may suspect adverse side effects from a current medication they are taking. Also this could be helpful for anyone who knows they may be in line soon to receive prescription medications they will need to take on a regular basis.

This test will help identify the potential negative side effects of a medication and can even help prevent future medical expenditures by preventing these negative side effects.

The Benefits of Pharmacogenetics

Medications don’t benefit everyone the same way. While some receive the complete benefit of a prescribed medication others can see unfortunate side affects and experience conflicts with their health.

For seniors this is especially significant who may be taking several medications on a daily basis.

This is where genetic testing can help to identify conflicts with prescription medications. Through this form of testing your genes can be analyzed to understand your body’s response or interaction with a specific medication. This applies to both prescription medications and over-the-counter drugs as well.

How Does PGx Work?

There are two ways to collect a DNA sample for this type of test. The easiest would be saliva test and the second option would be a blood test from a local clinic.

The need for testing is determined on an individual basis with you and your health care provider. Each medication that is tested is a unique form of the test to identify specific genes related to that prescription medication.

Pharmacological testing  helps determine:

  • Whether a medication will be effective for an individual
  • Dosage amount that will be optimal
  • Whether a medication will cause any side effects

Common Pharmacogenetic Medications Tested

This is not a complete exhaustive list, but these are considered some of the most common pharmacogenetic medications which are tested for:

  • Antidepressants/Epilepsy Medications: linked to
    CYP2D6, CYPD6 CYP2C9, CYP1A2, SLC6A4, HTR2A/C genes
  • Antipsychotics: medications to help mental disorders linked to
    DRD3, CYP2D6, CYP2C19, CYP1A2 genes
  • Carbamazepine: epilepsy treatment linked to
    HLA-B*1502 gene
  • Opioids: pain medication linked to the
    OPRM1 gene
  • Warfarin: blood thinner linked to the
    CYP2C9 and VKORC1 genes

Other common tests include Thiopurines, Clopidogrel, Irinotecan, Tamoxifen, and 5-Fluorouracil , Abacavir, Carbamazepine, Phenytoin, Methylphenidate, Selective Serotonin Reuptake Inhibitors (SSRIs) and Statins.

Preventative Testing Can Save You Thousands
(Even Tens of Thousands)

It is estimated that the average senior will spend just under $6,000 in medical costs in a year when they are not dealing with significant life threatening illnesses.

This cost quickly escalates if a senior is dealing with anything beyond regular health checkups and low level health challenges. This can include but is not limited to:

  • A complex inpatient surgery or procedure
  • Requiring in home medical care
  • In need of medical therapy or treatment for an extended period of time

For this reason, it is important to consider this preventative testing to not only prevent life threatening illness but also to consider this to prevent high medical costs due to necessary medical treatment.

Reasons A Doctor Might Recommend PGx

PGx testing will help guide your current or future medication use. It is important for the following reasons.

  • To prevent serious side effects related to a medication prescription
  • With current medications an individual may be taking this will inform your dosage amount and whether or not you need an alternative medication
  • Or it can be used to identify the best medication and dosage that work for an individual

After Taking A Genetic Test

If your genetic test was done for preventative reasons for yourself, children or grandchildren it will be important to take two steps of action.

First, you’ll want to follow up with your primary care physician regarding the results of the test to determine the best preventative treatment options available to you.

Many of these preventative treatment options will be highly specialized. For this reason your primary care physician will probably refer you to a specialist who will provide you with specific guidance.

*The type of medical specialist you will see will be determined by what the test uncovered in your DNA.

Your second step will be to inform your family members, most importantly your children and grandchildren so they are aware of these potential genetic predispositions.

This is very helpful for them, because they can potentially take very important steps early in life. The preventative steps they can potentially take could have life-saving impact to keep them healthy and disease free.

If the test was taken based on a suspected disease because of your symptoms then preventative treatment will be your top priority. You will need to follow up with your primary care physician or you may need to contact a licensed medical practitioner that specializes in the suspected disease.

Will PGx affect my medical insurance, life insurance, disability insurance or long-term care insurance?

No, this form of testing will not effect your medical insurance, but it could affect your life insurance and/or long-term care insurance.

After Congress enactched the Genetic Information Nondiscrimination Act in 2008, it protected consumers by prohibiting medical insurance companies and employers from discriminating against individuals on the basis of genetic information.

But this federal law does not provide protections with regards to life insurance, disability insurance or long-term care insurance companies. Although the federal law does not provide protections, individual states do have protections in place and you should consult your insurance provider on the protections in your state.

How Should Results From a Pharmacogenetic Test Be Reviewed

Important to keep in mind that you should not change or stop taking any medicine based on a report from a genetic test you took on your own.

Take the results to your primary care physician and review them at length to discuss any results that could affect your overall health.

A few priority questions to ask your primary care physician after receiving results:

  • Does medication label include information on how to use genetic results to determine a dosage?
  • Will this alter dosage amount?
  • Will new alternative medications be needed in light of the results?

Please remember that medicine should always be taken as prescribed by your health care provider. Always confirm results and seek a secondary opinion if needed.

These Are Not One Size Fits All Results
No, these results are not one size fits all and should not be treated as such. There are a variety of factors working together to impact a bodies response to a specific medication.

This test on its own does not provide comprehensive enough information to make informed decisions on the safety and efficacy of a drug. 

Genetic Testing Facts Or Fiction

Genetic Testing Can Help Identify Over 2,000 Illnesses: Fact

Since the first preventative genetic tests in 1993 for cancer, now these test can identify over 2,000 different illnesses.
A genetic testing is able to identify an illness by identifying genes within an individual’s DNA.

Genetic Testing Can Be Performed At Home: Fact

Tests can be performed at home with mail order kits that will have pre-packaged instructions. These kits will give you a simple receptacle to collect a swab test from the inside of your mouth.

Genetic Testing Is Approved By The FDA And Medicare: Fact

Since 2006 the FDA approved genetic testing and at-home tests by mail were approved in 2015. 

Genetic Testing Can Prevent Disease: Fiction

This form of preventative testing will help to identify disease but it will not prevent disease. After a disease is identified it is important to receive a prescribed preventative treatment plan from a licensed medical practitioner.

Genetic Testing Is Always Accurate: Fiction

This form of testing is not always accurate. For this reason a doctor may request additional genetic testing or other types of test to confirm a diagnosis.

From the FTC Fact Sheet on Genetic Testing

Link To The FTC Fact Sheet

These are two important facts to keep in mind reported by the FDA regarding at-home consumer genetic testing:

Validity of Genetic Tests According To The FDA And CDC

According to the Food and Drug Administration (FDA), which regulates the manufacturers of genetic tests; and the Centers for Disease Control and Prevention (CDC), which promotes health and quality of life, some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation.

Types of Genetic Tests

Typically, these tests require a blood sample or a swab from inside the cheek. In “at-home” tests, the sample is collected at your home and then sent to a laboratory for analysis. Prices of at-home genetic tests range from $295 to $1200. 

Interpreting Genetic Test Results

The results of genetic tests are not always “black and white.” That makes interpretations and explanations difficult. In most cases, diseases occur as a result of interaction between our genes and the environment — for example, our lifestyle, foods we eat, elements we are exposed to such as sunlight, and tobacco.

Most genetic tests look at only a small number of the more than 20,000 genes in the human body. A positive result means that the testing laboratory found unusual characteristics or changes in the genes it tested.

Claims Of Genetic Tests

Having a particular gene doesn’t necessarily mean that a disease will develop; not having a particular gene doesn’t necessarily mean that the disease will not.
Be skeptical of claims that the tests can assess a person’s ability to withstand certain environmental exposures, like particular toxins or cigarette smoke. The FDA and CDC aren’t aware of any valid scientific studies that show that genetic tests can be used to predict whether a person can withstand environmental exposures.

We have additional articles that will help seniors understand genetic testing and its benefits.

The History of DNA Testing

Is Genetic Testing Worth It For Seniors?

Why Seniors Benefit The Most From Genetic Testing

Can Medicare 100% Subsidize Genetic Testing?

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