geneIQ – Genetics and Diagnostics

Direct to consumer (DTC) genetic testing has been a growing field. We now have tens of companies offering a variety of tests in DTC mode. There are tests relating to ancestry, health, family planning, or lifestyle, such as fitness and diet. There have been a lot of recent opinions and reviews on the tests available. In fact, in October 2017 Eric Topol has commented on Twitter, on value of some of the DTC genetic tests. Soon after an article appeared in the MIT technology Review discussing the issue even further. In the center of the discussion were tests and apps offered by a DNA store, Helix. Helix can be likened to Amazon when it comes to buying genetic tests and apps that are to guide you through the results. There also are DTC tests sold through Amazon.

Definitely availability of the tests is growing exponentially. However, the trick is not with running a test but with the interpretation and value of the information. Among the tests offered by Helix there is a carrier screening test through Sema4, which includes access to a genetic counselor once the testing is complete. And this is a test similar to those ordered by a doctor during pregnancy. Yet, at the same time you can test your DNA for wine preference or food habits. There is a desperate need for strong scientific evidence that this is actually of some value to a customer. We all remember the trouble 23andme got into with the FDA, yet they bounced back with solid scientific backing of their tests. Now we have the new wave of the DTC with aggressive marketing aiming to tell us what our genes mean for not only our health or ancestry but also our diet, athletic ability, tastes, wines, cosmetics, baby’s future appearance and the list goes on.

FDA has announced in November 2017, that it will be less strict on regulating DTC genetic tests reporting back health outcomes. So quite possibly we will not witness another round of warning letters to those companies. Whether this is a good thing or not is a topic for a separate discussion. For now let’s focus on why you would like to get a test done. Ancestry testing is definitely popular and there are multiple options just there. What do they offer? Well… that vary between the companies.

What do you need to know or understand as a consumer before purchasing any of those tests? Yes, even the ancestry tests.

1. What are you trying to find out by doing such test? It is an important consideration as some of the answers can be provided by more than one company. A good example is ancestry testing. You can use 23andme, AncestryDNA, FamilyTreeDNA, MyHeritageDNA, LivingDNA, National Geographic, iGENEA, Dynamic DNA Laboratories, Nimble Diagnostics, Home DNA, DNA services unlimited and the list is growing.
2. Do you want to share the information or use external analytical tools? There could be limitations as different companies use different set of markers or different technology or purely are not willing to share the data with outside world.
3. Do you want to find some health related answers? Having a disease, family history, or being curious is a great reason, however, in such case it is best to talk to a genetic counselor even before you embark on any testing to see what would be the most appropriate way to test for your particular interest.
4. Cost of the tests offered vary a lot from $49 to $1359, with majority being about $100 mark. All those DTC tests are out of pocket expenses, so while $99 might seem OK if you decide to add some other tests you can easily end up with a large bill. Pick the test that seem to give you answers you are looking for, or the same as your family members did so you can compare easily.
5. DTC tests rely on self collection of a sample. There are two primary ways a sample is collected: saliva into a tube or with a swab from the inside of your cheek. Both methods are perfectly fine, you should follow the instructions that came with a package exactly! Majority of the companies describe collection method online so you can check it before you order. If the test is to be a gift for a family member, make sure that collection method is suitable for this individual.
6. Privacy issues, your data being used for research, consequences for health or life insurance are things that keep changing and it is important to be aware of what any genetic testing can mean for you and your immediate family.

Here are some details on what you can expect to find when looking for ancestry DNA testing. It is not just 23andme and Ancestry, there are many more options out there with varying prices, levels of service, ability to share data across different genealogy platforms.

LivingDNA – this test not only covers your family line ancestry, but unlike other tests we also include your motherline, and your fatherline ancestry if you are male. Focused on European populations, in particularly British and Irish. $159, priced for limited time at $99 plus delivery, uses a swab to collect material. Results get back to you in 10-12 weeks.

Geno2.0 has also maternal and paternal haplogroups, $79.85 when you buy 2+ kits, regular price is $199.95, available through Helix, it uses saliva. Results take 6-12 weeks.

MyHeritageDNA – Regularly priced at $99, special at $69, cheek swab. Results available in 4 weeks.

23andme – Ancestry only at $99, saliva. Results in 6-8 weeks.

FamilyTreeDNA – offers a comprehensive family history testing, with autosomal test – Family Finder, which can be then added to paternal line testing for males only or mitochondrial (maternal line testing) for all. Those can also be ordered separately. Tests beyond the basic Family Finder, currently priced at $79, get a bit expensive as you keep adding options, it uses a swab.

AncestryDNA – $99, on special at $79, saliva. Results can take 6-8 weeks, but occasionally a little longer.

Home DNA – $199, they use a swab. Results take 6 weeks.

iGENEA – offers a basic test at $199, premium test with haplogroup indication at $559, and their top expert test with detailed Y-chromosome and MtDNA analysis, at $1355, it uses a swab. Results come back in 6-10 weeks.

The next three labs are actually well establish genetic services labs with lots of experience in genetic testing and are expanding into new area of testing.

Dynamic Laboratories – they offer maternal and paternal ancestry, each priced at $149, or a comprehensive testing at $249.They use a swab for sample collection. Information about the tests are very limited and no timeline is given for return of the results.

Nimble Diagnostics –  $299, it uses a swab. Their test assesses autosomal DNA, mitochondrial (maternal) DNA and Y-chromosome (paternal DNA). No information on timing for return of the results.

DNA Services Unlimited – Ancestry is a new addition to their mostly forensic menu of tests. They offer three different tests – Ancestry DNA: Origin at $199 with turnaround time of 6 weeks, Lineage DNA: maternal ($199) and Lineage DNA: Paternal ($139), both returned in 30 days.The tests use a swab.

Summary

I have seen some of the data coming from those tests and the reports provided. This is probably single most important area that needs improvement. The actual details on how the tests are done and what is tested vary between the companies. Most of them give some information, but a lot of it is very general. While some level of secrecy is their way to preserving the competitive edge, the process is hardly secretive when it comes to what and how can be tested. As those tests are mailed saliva or buccal swab is collected, DNA is extracted and subsequently using one of a few available technologies, commercial or custom products a sample is genotyped. What it means that a varying set of alleles considered important for ancestry tracing is identified.

Mitochondrial DNA is used to trace your maternal background as mitochondria are only inherited from the mother. On the other hand paternal lineage is determined using Y-chromosome and is only useful for males.The most important issue with ancestry testing is interpretation of the data and this is where those companies will differ, why some people get multiple reports with very different results. Obviously if you are testing with other family members or you have been adopted this could be a very helpful tool. However, if you want to determine in detail which area of a particular continent you came from, it may not be such an obvious answer. Look at the sites, talk to your family, friends, and most importantly figure out what you want to learn from this test.