Should We Trust At-Home Family DNA Testing For Hereditary Diseases?

family tree

DNA tests are more popular then ever with families. There are many people that will give them as gifts over the holiday season. All we have to do is create a sample of saliva, seal it in a bag and send it back to the DNA testing company.

Before long, the results come back and we learn a little more about ourselves. For many, this is a fun chance to learn about ancestry. We can follow family lines and dig up traces of ethnic lines we thought were impossible. Yet, there is now another side to family DNA testing. We can now test for signs of hereditary disease. What can families really learn from these tests. Also, is this something we should expose our families to?

DNA testing for inherent disease and DNA markers is a fascinating breakthrough. Accurate testing can offer insights into risk factors for many diseases and illnesses. In some cases, subsequent actions could help to improve health, or even safe lives.

There are many questions for parents regarding these DNA tests for hereditary diseases.  There are concerns for parents interested in commercial at-home testing kits.

  1. What can we really learn from these alternative testing procedures?
  2. Can we trust such a new process to provide accurate, reliable information?
  3. Is this the best way to learn such information?

Understanding the DNA Testing Results

All worries here are understandable. Testing companies providing hereditary disease services were only recently permitted to do so. The information offered is new and oddly in depth for an at-home service. There is a lot to learn from such a simple swab, and this can be overwhelming. Some organizations worry that this may lead to misguided information. These actions can also take users away from medical consultations. There are pros and cons to this approach. Let’s start with the pros.

The first benefit with this new approach to DNA testing for hereditary disease is accessibility.

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Ancestry kits for $99 broke the mold for DNA testing. Anyone with the money could send off a sample and learn about their heritage and ethnicity. New FDA rulings allow companies like 23andMe to expand into these medical tests. This all means simple testing for anyone in the family. Older parents can enjoy a non-invasive, convenient way to learn more about risks in old age. Children can take part without any fear over scary tests and medical facilities.

There are three different purposes to these DNA tests for inherent disease in the family.

1) To begin with, there is great worth in testing ourselves as parents. We are the link between loved ones, between our older relatives that may have suffered and children that may carry a gene. Self-testing gives an idea of possible risk factors and a sense of peace of mind over personal health.

2) There may be high risks from a strong family history of any of the illnesses above. If so, there is always that concern that the gene passed down to our kids. A simple saliva sample at home is a fun “game”. It could help us to understand gene markers and risks in kids, without medical intervention. Doctors can get involved should the results come back positive.

3) Then there is the risk to our elderly parents, who perhaps missed out on checks and information. Risk factors of late on-set diseases like Alzheimer’s and Parkinson’s could show up on these tests. Test them early enough and you could help to improve their prognosis. Again, any test on older relatives could also provide implications for younger relatives.

The next benefit for families is the range of diseases and illnesses covered.

Disease Markers Covered In The DNA Tests

These at-home, accessible tests are simple in the method of collection, but complex with the testing procedure. Testers can look for a series of disease markers with different forms of gene sequencing. This ranges from cancers to blood diseases. Some companies claim they can test for hundreds of illnesses and risk factors. Four of the most interesting and popular options for families right now include the following.

  1. Breast cancer is a big concern for all women. But, that risk increases when there is any family history of the disease. Faulty genes increase the risk, often by as much as 70%, and pass down maternal lines. The story hit the public consciousness when Angelia Jolie tested herself for the gene and found she had it. She took the bold step of a double mastectomy to reduce the risk.
  2. Sickle-cell anemia is another cruel hereditary disease that we can learn more about through these forms of DNA testing. Families with a medical history can test themselves to better understand the risks. For example, do they risk passing the disorder to their children in the future.
  3. Celiac disorder is less dangerous, but still has a massive impact on the lives of those that develop it. Some don’t suffer with this gluten intolerance until later in life. Others struggle with gluten but don’t know why. These simple DNA tests could provide the answer. Those that test positive for this risk factor can amend their diet.
  4. Alzheimer’s is one of the leading medical concerns in the world today. The aging population means more and more cases. It is possible to test ourselves, and parents, to understand the risk a little better. The presence of associated genes doesn’t mean that we are certain to develop Alzheimer’s. Yet, we can work to keep our brains active to hold it off if we know there is even a small chance.

23andMe is one of the leading companies pioneering these new tests for disease markers in DNA.

23andMe uses genotyping technology for their testing procedures. This method looks for specific sections of DNA and brings them together. This helps testers to determine clear markers for specific diseases. This is why they are one of the top companies when it comes to diverse, growing list of possible tests. Many will turn to this company simply because of the familiarity of the name. They trusted them with their ancestry results, so why not these other tests?

23andMe was recently given FDA clearance to offer medical testing and results to users. This was once banned over fears of misrepresentation of results and test standards. These new tests add a new option on top of the already popular ancestry test. Buyers can now do both in one kit for $199. The great thing about this company is that they continue to expand and learn, adding new options. Once they have a user on file, they can send invitations for new tests as they become available.

Map My Gene offers a different approach and a little competition in the market never hurts.

Map My Gene take a different approach to their tests with next-generation sequencing. This method focuses on the protein-encoding elements alone. This exome can also help in learning about disease risk. They offer what they call the Disease Susceptibility Genetic Test (DSGT). This helps users determine whether they carry key defective genes for 100 diseases. The test helps to pinpoint important information and relay this to users in a convenient manner.

The company is very clear on their mission here. They say that this approach is all about prediction, prevention, management and savings. To begin with, there help to predict health issues via these markers. They flag up concerns before they become a problem. Then they say it is all about providing precautions and advice to prevent complications and manage health. Essentially, patients can then take action with their health care plans. Finally, this allows for savings on medical bills in the future. The problem here is that critics don’t believe that companies go far enough after that first step. They can predict, but they aren’t always so good at helping with prevention and advice.

The major issue here is the lack of medical guidance.

The fact that patients receive such important information in their own homes is both a benefit and a problem. There is convenience in the method. Families can log into their profiles and find results on their tablets. This saves on multiple trips to the doctors, or other specialists, which can be costly and daunting. The best case scenario is that we test our kids without this medical intervention. This way we can get a negative result and never have to worry them. The problem is that they may go through all this alone. This may have no support or guidance on what it all means if this isn’t that best case scenario. There are better ways to learn that a loved one has the gene that increases the risk of a disease.

Should we embrace these family DNA tests for hereditary disease, or is it all a little too soon?

infected cell

There are some negative considerations here with these family DNA tests for hereditary disease. Yet, there is no reason to dismiss the concept entirely. This is an approach that can do wonderful things for families and no reason to hold back on using this as a nice gift for Christmas. There is no doubt that these test will only improve and diversify with time. Companies, such as 23andMe, will find that they are better able to provide results for other markers. The list of diseases to test will grow considerably in the coming years. Developments and competition could also lower the price and ensure that test are even more accessible. Soon enough, we will all have an affordable way to test children and parents for genetic risks and other information.

The issue here is that idea of misguided information and a lack of support. Increased diversity in testing means the possibility of results on multiple risk factors. This could open the gates to a flood of confusing, overwhelming information. Parents could learn so much about their kids with no context or prognosis – no idea of the next step forward.

This is why companies need to work with medical professionals and counselors to improve their services.

Ideally, the results issues by these family DNA testing services will be the first step in a clear program. Charities and other experts call upon them to improve links for support and guidance. If there is a report of a risk of breast cancer, there should then be links and information on what to do next. Those with kids that show signs of celiac disease could have guidance and support on making dietary changes. Those that test elderly parents for Alzheimer risks can have guidance and support on ways to slow down any possible onset.

The Celiac Disease Foundation is open to these forms of at-home testing. However, they share fears that patients will suffer alone. They want all parent to know that they should turn to a family physician if they, or children, show any risk factors. This will allow them to get the information and support they need for dietary changes and other factors. Meanwhile, the National Society of Genetic Counselors favors the use of direct referrals for users to counselors. They insist that trained genetic counselors are the only way to ensure to we interpret results correctly. They can provide insight and information on hereditary diseases in a professional manner. More so than a web page from a testing site.

DNA tests are all about learning more about our families to protect them

We want to know if our kids or parents are at risk and if we share traits across the family. We want to know in order to help them and limit any risks. These reports can act as red flags and early warning signs in the right hands. The next step comes in taking that red flag, showing it to a professional and working on a solution. Those actions and results could help to minimize risks and effects in the long run

These at-home family DNA testing kits for hereditary diseases are wonderful in theory. We can use them with all member of the family for some interesting results. The quality of the testing procedures means results that we can trust. The obstacle lies in the practice and application. With time, that too will improve and these DNA tests procedures will save a lot of lives. Parents questioning whether or not to proceed should do so, but to do so with care. You must remember that the final result is not always the end of the process. Stay open minded and informed and work with health care providers.

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