Genetic Testing for Heart Disease in a Post Covid World

Medical conditions that run in a family are inherited or genetic—caused by changes in genes that are passed from generation to generation.

After the recent run of global lockdown, it’s more important than ever that covid survivors know facts related to covid that will impact their future health.

Genetic testing is proving to be more vital. These observations have been reported by hospitals globally.

1. Individuals with COVID-19 and heart disease are at the highest risk of death and severe complications.

2. The heart might be adversely affected by COVID-19 even if individuals don’t have any pre-existing conditions.

3. Fear of contracting COVID-19 has led to a sharp decline in assessing risk for developing cardiovascular disease.

One of the greatest and easiest benefits is that genetic testing can be performed at-home with a swab test. Although these tests are not 100% accurate, they can help you spot potential health challenges early on before it ever becomes life threatening. This will not only help you avoid hospitalization but it will also help you avoid the financial impact of treatments that will be more costly if the illness does progress to become life threatening.

Primary care physicians can already help protect a senior is two fold using Genetic Testing:

1. They will assess family history of illness and disease
2. They will assess any family member who has tested positive for a genetic test

They will then be able to recommend a specific genetic test to their patient. Different diseases can be inherited in a variety of ways depending on the magnitude of influence the gene (or genes) being investigated may have.

Some conditions, like high blood pressure or coronary artery disease (blockages in the arteries that supply the heart with blood), run in families but probably result from a number of different genetic changes that individually have a subtle effect, but work collectively in a complex manner to cause disease.

Although some heart disease is seemingly complicated others are caused by as little as one gene that can have severe effects in causing disease.

Examples for this include:

1. Conditions that affect the heart muscles (cardiomyopathies). This can include diseases such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC)

2. Conditions that affect the electrical system of the heart causing abnormal heart rhythms called arrhythmias. Examples of inherited arrhythmias include Long QT syndrome and Brugada syndrome.
The benefit of early diagnosis via a genetic test is the ability an individual has to make life changes or medical treatments to reduce the risk of developing a life threatening illness.

It’s important to note, that although you can find self medication and natural treatment options online it’s always best to seek counsel from a licensed medical practitioner. All inherited heart diseases require special attention and could require a treatment plan that is more personalized to an individual than a generic treatment plan due a person’s unique history of health.

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.

How Does Genetic Testing for Heart Disease Work?
(Principles Behind The Science)

Genetic testing is an analysis of the DNA. By analyzing chromosomes, deoxyribonucleic acid, or ribonucleic acid genetic variants can be identified that may be of medical significance. 

There are three types of genetic tests related to identifying disease

  • Direct detection Testing
  • Linkage-based Testing
  • Genomic Testing

Direct detection testing is the most common. Just as the name implies it is focused on the direct detection of a mutation responsible for disease.

Although those are the most common types of tests, linkage-based tests are also necessary in some cases. A linkage-based test relies on the use of genetic markers that reside nearby a gene of interest to track inheritance of the gene in a family.

This approach is used less often as the genes involved in disease risk are increasingly amenable to direct testing.

A third type of test known as genomic testing focuses on the analysis of multiple genetic variants or products of gene expression to gain an overall view. This overall view of an individual is referred to as “genomic fingerprint”.

Heart Disease and Genetic Testing

Coronary artery disease is the leading cause of death in the world, affecting 13,000,000 people in the U.S. alone.

Due to the fact this has grown in recent decades as a major public health concern, genetic testing has risen as a possible preventative testing measure to help reduce these numbers.

Significant efforts have sought to reduce the mortality and morbidity associated with CAD. These efforts have focused primarily on modification of environmental and behavioral risk factors but the mortalities related to coronary artery disease still remain high. These recommendations to the general population included

  • Substituting a sedentary lifestyle with and active lifestyle
  • Curbing smoking 
  • Lowering BMI and obesity
  • Reducing high-fat diets

Modifying these behaviors is extremely important, especially for seniors. It is medically proven to reduce cardiovascular mortality and morbidity. 

Although an individual can take each of these preventative measures, family history remains the single strongest independent risk factor for development of CAD. In most cases this risk cannot be determined more precisely unless a genetic test is performed. The information gained through a detailed family history does not identify specific interventions to limit risk, nor can it assist in determining a treatment plan. Thus, identification of specific genetic risk factors is essential for more precise risk determination, as well as individualization of therapy. 

Testing for specific indicators will always be beneficial if an individual has no documented family records that document the history of illness in prior generations.

What Are Secondary Findings of a Genetic Test?

The secondary findings of a genetic test can also be very valuable because these findings are broader in scope beyond the disease concern which triggered the genetic test. (This contrasts with a primary genetic finding that explains disease in a patient tested after already being confirmed or suspected to have disease.)

In most situations, the individual, when clinically evaluated, will have no evidence of the expected cardiovascular phenotype implicated by the variant identified by the specific genetic test. This has brought about a new dimension in clinical cardiovascular genetics: what to do with an individual identified with a putatively relevant (and usually disease-causing) variant with no phenotype.

Genetic Testing For The Heart

The cardiovascular system is made of two core parts:

  1. The heart organ
  2. Secondly all the blood vessels that supply nutrients to all other organs

The most effective way to identify at-risk individuals or to confirm a diagnosis is hereditary cardiovascular risk assessment.

Seniors benefit the most from medical advancements, because now they can do the unthinkable. Even without medical records of prior generations, a genetic test can look at DNA to understand if there is a genetic predisposition to heart disease within a family line.

Through genetic testing that was first developed for early breast cancer detection, now 174 genes related to 19 genetic heart conditions can be identified with this simple test. The heart conditions that can be identified include:

  • Aortic Valve Disease
  • Marfan Syndrome
  • Loeys-Dietz Syndrome
  • Short QT Syndrome
  • Catecholaminergic Polymorphic
  • Ventricular Tachycardia (CPVT)
  • Familial Hypercholesterolemia
  • Restrictive Cardiomyopathy
  • Non-Compaction Cardiomyopathy
  • Noonan Syndrome
  • Arrhythmogenic Right Ventricular
  • Cardiomyopathy (ARVC)
  • Brugada Syndrome
  • Structural Heart Disease
  • Long QT Syndrome
  • Familial Aortic Aneurysm
  • Familial Atrial Fibrillation
  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy

The Future of Genetic Testing

Genomic technologies are advancing rapidly and it is hard to predict how quickly new technologies will become adopted in routine clinical practice. 

These genetic testing techniques were first introduced in the early 1990s for one type of cancer which tested for two specific genes. In less than 50 years this single test has expanded to be able to identify over 2,000 specific diseases expanding beyond cancer to heart diseases and many others

These tests have developed rapidly and although they cannot currently lead directly to preventative treatment plans, it is likely this next step will occur within the coming decade. The ability for these tests to help prevent serious and life threatening diseases is a major breakthrough in the future of healthcare, especially for seniors.

There is a strong need for an evidence-based approach to discerning when and where genomic medicine can impact patient outcomes. 
Prior to the FDA’s approval of genetic tests in 2006 evidence-based studies were already being undertaken to discern the degree to which these can impact patient outcomes.

In 2015 when the FDA approved at-home direct to consumer genetic tests, their governing body already saw enough evidence of clinical validity to warrant it’s approval. Since then a proposal by the American College of Medical Genetics and Genomics (ACMG) was put forward to monitor all tests and testing standards. genomic information. 

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.

Here is important information to consider from the FTC when looking at a genetic test as a preventative measure.

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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