Can DNA Tests Help Find Rare Diseases?

With all the advancements in DNA testing these days, how is one to keep up? That’s why, here at DNAGeek, we’re keeping up for you.

When it comes to rare diseases, DNA tests can’t diagnose anything or predict if you’ll contract one of them, but they can tell you if you’re a carrier or have the markers for them. We’ll take some of the confusion out of what’s available.

Quick Overview

DNA tests are not just for establishing paternity or looking into ancestry. Certain tests can actually help you determine if you are likely to develop particular diseases in your life based on your genetic makeup.

These tests look closely at your DNA and provide information on the most likely diseases and health problems you will face in your lifetime.

How DNA Tests Check for Disease

DNA tests look closely at your cells. The genetic instructions that make up who you are help determine a lot about you. Certain genes in your DNA may be inherited from your parents, while others have been mutated based on outside interference.

Environmental factors like food and exposure to toxins may alter the way your DNA binds with certain molecules.

Why Would I Want to Find Out About a Predisposition for Disease?

Finding out that you have a predisposition to develop a certain disease can help you make preventive decisions. Certain lifestyle changes can have a major impact on whether you will, in fact, develop an illness as the test indicates.

If you have a family history of heart disease, for example, then changing your diet and getting more exercise now might help ensure this doesn’t actually happen in the future.

You may want to have your child’s DNA tested along with yours to determine why they were born with a certain illness. Without any family history for yourself, you may have never known you had a particular disease that could be passed down through your genes.

Getting yourself and your child tested could help you find the answers you’re looking for. It may allow you to discover if there are ways to prevent this from happening to any future children you plan to have, or at least help you prepare for them to have the disease as well.

Conditions DNA Tests Look For

Many different conditions can be found with a basic DNA test. Alzheimer’s is one of the biggest, giving you insight into whether or not you could develop a serious problem with your memory as you age.

DNA tests also look for Parkinson’s disease, celiac disease, Alpha-1 antitrypsin deficiency, primary dystonia, factor XI deficiency, hereditary hemochromatosis, Gaucher disease type 1, glucose-6-phosphate dehydrogenase deficiency, and hereditary thrombophilia.

Where Can I Get a DNA Test?

You can speak to your doctor about getting a DNA test done that looks for specific genetic markers that indicate disease. This will give you the most insight into the types of disease you are likely to develop and ensure you can go over all the details fully with your physician. However, this can be costly.

At-home DNA test options are also available that allow you to test for a handful of diseases with ease. You simply order a kit, swab inside your cheek, and send the sample into the associated laboratory to have it examined.

You usually have your results back within a few weeks. Both a kit fee and lab fee must be paid in this case.

You can purchase at-home tests either in a store or online. Purchasing from the store gets you the test faster so you can use it immediately.

Ordering online will have you waiting a few days or more for the kit to arrive, yet it may be more affordable and give you other options to choose from.

23andMe, ($199) for example, is one testing option. This test meets FDA approval.

Not only can you determine if you have a predisposition for certain diseases, but you can also find out about inherited conditions that you may carry which can be passed onto your children. This is vital information for anyone looking to expand their family now or in the future.

Admera Health offers a test precisely for those with diabetes ($189.99 for the full fee and lab costs combined). You may not have the type your doctor immediately thinks.

There is an inherited form that this test can check for, which requires different treatment. If other treatment options are not working for you, then taking this test may be valuable.

One single genetic variation causes this form of diabetes. If you were diagnosed with diabetes before you even reached the age of 25 and you’re not overweight, then you have the potential to have this form of the disease.

Centogene, known as the rare disease company, offers in-depth testing. Their patient screening program looks at biochemical markers and genetics to pinpoint a diagnosis.

You use their CentoCard to send in your sample and get your results. You fill out the information on the card, indicate your symptoms that may make you feel like you need to test to receive a proper diagnosis and fill each circle with your blood samples.

The paper must dry for a couple of hours before it can be sent in.

The cost varies greatly depending on how many different tests you want to attempt. Whole genome sequencing, mitochondrial disease testing, genetic insights into various diseases, breast cancer testing, and more can be conducted from your blood samples.

The company tests within 12 different disease categories.

CarrierCheck by Sema4 ($239.99) offers genetic screening. This test specifically looks at the way your DNA may affect your future children. You must be at least 18 years old to use the test.

It gives you insight into any rare or common diseases your genes carry that could be passed onto your children if you choose to have any. The test results are detailed and easy to understand.

The website also offers recommendations for the next steps you should take and helpful information so you can understand exactly what the disease is and does.

You can see a fully detailed report or even ask to speak with the genetic counselor from the company. This helps you better understand the test’s findings and can help you make decisions for the future.

Some people find out they have a serious disease to pass on and decide not to have children because of it. This decision should be well-informed and never taken lightly.

Tests That Detail Lesser Known Health Problems

Some tests do not provide details on serious health problems that could develop. Instead, they offer insight into how fitness and diet can play a role in your life based on how they interact with your genetics.

They may not give you a look at rare diseases you could contract, but it does allow you to see a health report that helps you make positive changes for your life.

Vitagene offers one version. It provides an in-depth health report that tells you which vitamins, foods, and exercises are best for you.

You can receive a free phone consultation to help you understand your results if you would like. The results are available within four to six weeks.

HomeDNA offers several options. You will have to pay for the kit fee and lab fee for each one you want to try.

The Healthy Weight test kit ($24.99) looks at your genetics and provides a detailed analysis on how difficult or easy it would be for you to lose or maintain weight. It provides exercise and diet strategies that will work the best for your circumstances.

Send in your swab to the associated lab (additional $99 lab fee) and wait for your results.

The HomeDNA Skin Care ($24.99) analysis and report look at how your genetics impact your collagen quality, level of skin antioxidants, skin sensitivity, and more. With high skin sensitivity and a low level of antioxidants, you may be more likely to develop serious skin problems and even skin cancer.

This assessment would be worthwhile to know. You send the sample to the lab ($79 lab fee) in the same manner as the Healthy Weight test.

FitIQ ($24.99 kit) is another possibility. It looks at more than 20 different genetic traits and provides a comprehensive report on your health.

You can manage your weight, improve your fitness performance, and make healthy lifestyle choices with the help of these test results.

The test details how your body processes sugars and fats, how it responds to particular exercises, and how fast or slow your metabolism works, among other things. Use the return envelope to send in your swabs ($79 lab).

Collecting a Blood Sample

A simple swab test may not provide as accurate of results as a blood sample. If you prefer a blood sample test, you will need to have this performed in a lab setting.

A trained phlebotomist is best equipped to handle the job and will have the necessary tools to get the sample done and stored.

Reading Your Results

Within eight weeks, and in many cases as soon as two weeks, you should have your results to view online. They should all be detailed in an easy-to-read report that lets you see precisely which illnesses you have a possibility to develop, Look carefully over these results to understand your chances.

Each company’s report will be slightly different, but in general, you’ll see a percentage for each disease checked against your genes. This percentage tells you your likelihood for developing the illness and compares it to the average risk of other users.

It will tell you if your risk is higher or lower than other members.

Some reports also provide a star meter for the level of confidence in the results. Five stars mean a high confidence level.

Three stars or less with no risk assessment means the results are not accurate enough to determine if you might develop that particular disease or not.

Risks of Genetic Testing

There are no real risks of at-home genetic testing using a DNA test. Most only require a swab of the inside of the cheek. If you want genetic testing done for an unborn child, however, then there are some risks involved.

This would test would be performed by a professional in a hospital setting. The potential for miscarriage is small, but it is there.

The “risks” of typical genetic testing are more financial and emotional. You risk spending money only to find out you have no worry of diseases from your genetics only.

It may also be emotional to find out about a serious illness you could potentially have that will be hard to wrap your head around.

When to Speak With a Genetic Counselor

If you’re worried about developing a particular illness, perhaps because a relative has recently been diagnosed or has even passed because of it, then seeing a genetic counselor may be advised. An at-home test will only give you an inkling of whether you have the potential to have a serious illness.

A genetic counselor can look at your family history, medical history, lifestyle, and more to better evaluate your situation and give you more information.

It is also wise to see a genetic counselor if you are hoping to become pregnant and have already received test results indicating a high potential for certain diseases. These may be passed down to your offspring.

The counselor can further assess you to determine if your genetics will have an ill effect on your unborn child.

You may also want to speak with a genetic counselor, or at the very least your primary care physician, if you have the results from an at-home test and are now looking for guidance on lifestyle changes.

He or she can direct you toward helpful materials and inform you of the best health changes you can make to improve your well-being.

Some of these changes could drastically reduce your chances for developing the disease or at least prevent symptoms from becoming unbearable. Diet and fitness tips are among the most common recommendations you’ll receive.

Stopping smoking, avoiding drinking, and steering clear of other environmental factors may also be advised.

Should I Test?

The decision of whether or not to test is entirely up to you. However, knowing this information now can greatly help your chances of preventing the very disease or diseases that are predicted.

Having the knowledge now allows you to make necessary changes to help improve your well-being and make informed decisions for the future.