Everything you needed to know about direct consumer genetic testing

Consumer genetic testing has been subject of much controversy. Whilst it can provide what could be seen as insightful information for consumers, it also raises many ethical as well as medical questions – Just how useful are these tests and are they being marketed fairly? Are consumers being roped into buying something, taken in by big promises like extending their life expetancy and improving their health, but actually purchasing something that boils down to very little and makes inflated claims and promises?

What can Consumer Genetic Testing tell the consumer?

Image via Health Street.

Consumer Genetic Testing has different uses including testing for predisposition to genetic conditions such as Alzheimer’s or . Over two thousand different genetic tests are available, although not all of these can be tested for using the kit, as this kit is a newer and evolving technology. Testing for predisposition to genetic conditions is also a particular concern for individuals who are considering having a child together and are suspicious that a certain disease or condition is genetic in their family. Individuals might choose genetic testing to give them answers as to whether they carry a certain gene. Known as preconception genetic health testing, this is very useful, but then involves some serious thinking and difficult decisions if the individual does test positive for a specific gene.

What tests can the Direct-to-Consumer kits tell me regarding ancestry?

The major and most common DNA test kits for ancestry tell the consumer what their DNA ‘matches’ in terms of broad ‘mega populations’ such as American Indian, Asian, or African. Most kits are also able to break it down further by classifying the ‘mega population’ matches into categories of predominant, secondary, and minor ancestry links. These kits typically use a cheek swab to obtain a DNA sample using skin cells in the cheek. Another convenience to consumers with these kits is that they can set up an account to receive their results online. Sites such as Ancestry.com then offer further guidance in terms of tracing and locating relatives using the DNA kit results and other resources on their web site.

What can the Direct-to-Consumer kit tell me regarding medical conditions?

Many companies such as and many others sell a very thorough An important factor to remember regarding these test kits is that you may not receive a blunt ‘yes’ or ‘no’. The results might be on a percentage or rate for risk. This can lead to more anxiety for the consumer – a 60% risk of breast cancer is not really much to go by – there are too many other factors which come into play besides genetics.

Image via Prevention.com

The genetic predisposition health test is a test which is based on analysis of or SNPs. SNPs are important because these small variations in DNA sequence can have a significant impact and influence on whether or not we develop a disease (they are not, however, the determining factor and there is no single determining factor for the development of a genetic disease such as those analysed in a genetic predisposition test).SNPs are however, predicative markers of disease – with the word “predictive” here being key.

Unfortunately it is not solely genetics, but also environment and lifestyle that can contribute to certain medical conditions, such as cancer. Therefore a genetic test kit cannot thoroughly reassure you that you absolutely will not get pancreatic cancer or breast cancer. The tests cannot even evaluate the risk of a sporadic cancer – in other words, somebody may develop breast cancer either because they are genetically predisposed or because of a random, sporadic mutation in their DNA. Hence, this is an important factor to remember when shopping for kits. It is also highly recommended that consumers consult with their physicians or healthcare providers for further guidance, although this does involve additional cost to the consumer.

Genetic predisposition testing in the USA has not received clearance from the Food and Drug Administration and several companies have received warnings to withdraw sale of the tests in the USA. A genetic predisposition test can carry certain very serious implications, in that it evaluates somebody’s health risk but essentially provides little meaningful information from a medical perspective. Someone with a near 0% genetic predisposition to a disease can still develop the disease and somebody with a very high probability might never develop it. Certain individuals might take certain rather drastic measures following the results of such a test in order to mitigate their risk – one can take as an example Angelina Jolie’s mastectomy.

Paternity Direct-to-Consumer Test Kits

DNA kits can also be purchased for the purpose of testing for paternity. The appeal to consumers with this kit is the ability to maintain privacy and confidentiality while dealing with this sensitive matter. These kits can be purchased at local drugstores for as little as $30 or even online and offer testing for the child and one potential father. The ethical debates of direct to consumer paternity tests have been tackled extensively and various criticisms have been directed at online paternity tests. First and foremost, the results of a paternity test could overturn a family – ideally counselling and professional advice would be required since the emotional impact can be so intense. People often undergo the test without due consideration of how the results will affect the family, and especially the children involved. A father who discovers the child he thought was his was fathered by another man, may begin to resent that child. The child may suffer emotional consequences that might affect them for life – is this fair?




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