Wednesday, 10 July 2019

MyHeritage enters the genetic health testing market

MyHeritage announced the launch of a new Health and Ancestry test on 20th May this year. The launch occurred at a busy time of the year and I've only just got round to investigating it. On doing so, I discovered that the test is on special offer with 40% off the recommended price until 15th July so I decided to take the plunge and order a kit. I already have a MyHeritage DNA account but I have not tested direct at MyHeritage DNA. Instead I transferred my raw data file from AncestryDNA in order to participate in the genetic genealogy matching database. I received various e-mails from MyHeritage about the new health test but none of them mentioned a discount or special introductory offer and the 40% discount does not show up when I log into my existing MyHeritage account. I don't know if this special offer is available to everyone in the UK or if a similar offer exists in other countries so you will need to check for yourself. Make sure you log out of your MyHeritage account first. There was an additional charge of £9 for shipping so the test cost me £114 in total, a saving of £74.

MyHeritage is now using the Illumina Global Screening Array (GSA) for their Health and Ancestry test. This has a different range of markers (SNPs) compared to the AncestryDNA profile I uploaded to my other MyHeritage account. Having two accounts at MyHeritage will allow me to do comparisons to assess the effectiveness of the relationship predictions with the two different chips.

Included with the cost of the test is a free 12-month subscription which will allow me to receive all the new genetic risk and carrier status reports as they are released. The health subscription also includes all of the advanced DNA features for genealogy (such as viewing family trees of DNA matches, viewing shared matches and "ethnicities", and shared ancestral places), all of which previously required a MyHeritage site subscription. The health subscription will normally cost £89. However, I am somewhat concerned that the subscription is automatically renewed at the end of the year. In order to place my order I had to authorise MyHeritage to use my PayPal account for future payments.
I don't like the idea of having subscriptions automatically renewed so I have set myself a reminder to review the situation prior to the renewal. I have also discovered that there is an option buried deep in the settings to switch off the auto-renewal.

If you are ordering a test from MyHeritage there a few things to watch out for from a privacy perspective. As part of the order process you need to provide information about your date of birth. There is of course no requirement that you have to provide the correct date but you need to be aware that with the default privacy settings your "general age" (eg, thirties, forties, fifties) is automatically displayed to other MyHeritage members. MyHeritage also automatically creates a profile for you and by default this is publicly displayed. The default settings are shown in the screenshot below. 

Note that it is not possible to buy a MyHeritage kit as a standalone health test. Also you need to be aware that anyone who orders the Health and Ancestry test is automatically opted in to the relative matching feature and to the sharing of "ethnicity" reports and matching segment data. If you do not wish to opt in to these features you will need to adjust your settings in the My Privacy section under DNA Preferences. MyHeritage probably ought to review some of these default settings for their European Union customers because they are counter to the basic principles of GDPR (General Data Protection Regulation) which requires explicit informed consent.

I recommend checking your MyHeritage settings immediately after placing an order to make sure you are only sharing information that you wish to share.

The MyHeritage Health and Ancestry test currently offers 14 genetic risk reports including reports for haemochromatosis, Alzheimer's, late-onset Parkinson's disease, coeliac disease and hereditary BRCA cancers. There are 13 carrier status reports including cystic fibrosis, sickle cell anaemia and a number of other conditions, most of which I have never heard of. You can see a full list of the health reports here.

There have been concerns about false positive health reports with microarray testing. One study reported a 40% false positive rate though this was based on a small sample of just 49 people and included reports from third-party tools as well as direct-to-consumer genetic testing companies. According to the MyHeritage blog, the company takes additional steps to avoid false positive results and to ensure that the results are accurate. For any condition where a person has a significantly increased genetic risk, MyHeritage will double-check the results with Sanger sequencing.

You can watch the video below for an overview of the new MyHeritage Health and Ancestry test.

If you are in the US you should watch the US version of the video. MyHeritage have partnered with PWN Health, a private American network of doctors and genetic counsellors. US reports are reviewed by a doctor and you are referred, if necessary, to a genetic counsellor. The US price is $199 which works out at about £160 so it appears that American customers are paying a small premium equivalent to about £19 to cover the costs of the medical service. They do not have the option of ordering a test without clinical oversight.

You need to be over 18 to order the MyHeritage Health and Ancestry test. It is available in most countries of the world. It is currently not on sale in the following countries: Israel, France, Germany, Austria, Switzerland, Iran, Libya, Sudan, Somalia, North Korea, Lebanon and Syria. US residents living in the states of Rhode Island, New Jersey and New York are also not able to purchase the test. The price will vary in different countries depending on local taxes and exchange rates.

Direct-to-consumer genetic health tests are also provided by 23andMe, but they only sell their test in a limited number of countries. They are also not able to provide health reports in many of the countries where they sell their test. MyHeritage's entry into this market will now make health reports available to a much wider international consumer base. It will be interesting to see what the take up rate is and if there will be any international regulatory implications. The UK Parliament's Science and Technology Committee has just launched an enquiry into consumer genomics and the effects on the National Health Service. We will need to wait and see what recommendations emerge from this enquiry.

Once I've returned my kit it should take about four to six weeks to get my results and I will report back on what I learn and how the results compare with my 23andMe reports. There are proposals in England to have a paid for NHS genome sequencing service whereby healthy people will serve as "genomic volunteers" who will pay through the NHS for their genome to be sequenced and share the data. In the long run, I am probably likely to get more benefit from a UK-specific service which can be integrated with my health records as part of the NHS Genomic Medicine Service. However, such plans are in their infancy and, even if the service does eventually get off the ground, it will be useful to have data from other sources to serve as a comparison.

For further information about the MyHeritage Health and Ancestry test or to order a kit go to:

Further reading

Thursday, 4 July 2019

Updated genetic communities at AncestryDNA

On 19th June AncestryDNA rolled out over 225 new communities for people with ancestry from Australia, New Zealand, Canada, the United Kingdom and "French North America". These new communities are in addition to the 92 regions in Ireland that were introduced in January this year.  If you have taken a DNA test with AncestryDNA and have ancestry from any of these places you will probably find that your results have been updated and that the regions are now more granular.

I previously had just one genetic community for Southern England with South-East England as a sub-region. I am now in the Central Southern England community and have two sub-regions: (1) Dorset and Somerset; (2) Gloucestershire, Wiltshire and West Oxfordshire. Here is a screenshot of my updated results.

My dad previously had two communities: (1) Southern England with East Anglia and Essex as a sub-region; (2) Wales and the West Midlands. My dad now has three communities: Central Southern England, Devon and Cornwall, and East of England. He does not yet have any sub-regions. Below is a screenshot of his updated results. Note that although Norway and Sweden appear in his "ethnicity" estimate he does not have any documented ancestry from either country in the last 400 years or so. I fully expect Norway and Sweden to disappear from his estimate the next time Ancestry update their reference populations.

My mum was previously in two communities: (1) Southern England with South East England as a sub-region; (2) Wales and the West Midlands. She is now in the Central Southern England community and has Dorset and Somerset has a sub-region. See below for a screenshot of my mum's updated results.

Previously it was possible to access the confidence score for each community/region. I can no longer find a way to do this. I hope this feature will eventually be restored. We also used to have the ability to filter matches by region. This option has now disappeared but I understand that there are plans to restore it.

For my family the results haven't changed too drastically but the new communities do provide a marginal improvement on the previous results and are a good reflection of some of our predominant ancestries. As more people test and more people are added to the genetic networks that form the basis of the communities we can expect the results to change over time. I imagine that it will eventually possible to break the results down into more individual counties.

Have you had some updated communities? What do you think of your results?

Further reading
Related blog posts

Sunday, 2 June 2019

The end of public participation in the Genographic Project

It is the end of an era. The National Geographic Genographic Project has announced that the public participation phase of the project has been closed as of 31st May 2019.  It is no longer possible to order a Genographic kit, but existing orders will be fulfilled within a limit timeframe with the date varying depending on which kit was ordered. There is further information on the Genographic Project website:

The Genographic Project has provided a detailed set of FAQs:

As of today's date, the Genographic Project has sold 997,222 kits in 140 countries.

There are no doubt many kits still waiting to be returned and it's possible that the project will eventually pass the one million milestone.

This was an almost inevitable development after Rupert Murdoch bought out the media arm of the National Geographic and ended its not-for-profit status. The new for-profit arm was re-named as National Geographic Partners and was went into partnership with Disney in March this year. The National Geographic Society continues to operate as a non-profit organisation.

The Genographic Project was not without controversy. See for example the essay The brave new era of human genetics by Hans-Jurgen Bandelt, Yong-Gang Yao, Martin Richards and Antonio Salas published in 2008. The Native American researcher Kim Tallbear published a critique Narratives of race and indigeneity in the Genographic Project in 2007. Many population geneticists were critical of the fancy Y-DNA and mtDNA haplogroup stories provided as customer reports. Ancient DNA testing has now shown that we cannot use the DNA of living people to make inferences about past populations.

However, many genealogists first discovered the joys of genetic genealogy by testing at the Genographic Project. After transferring their DNA results to FamilyTreeDNA many people were then inspired to start their own surname projects, haplogroup projects and geographical projects.

The Genographic Project collected DNA from nearly 100,000 people from indigenous populations around the world. I understand they were waiting for the costs of whole genome sequencing to come down before starting to analyse all the data. This is a valuable resource and the scientific research will continue so we can look forward to many more interesting publications.

Anyone who has tested at the Genographic Project can transfer their data to the FamilyTreeDNA database:

Note, however, that Helix kits, which were sold exclusively in the US, cannot be transferred.

Genographic transfers will have the kit number prefixed by the letter N. Judging by the kit numbers in my projects at FTDNA, well over 200,000 people have already transferred their Genographic results to FTDNA.

When transferring to FamilyTreeDNA you need to be aware that if you participate in relative matching the company is now automatically opting all customers into Law Enforcement Matching. This means that DNA profiles uploaded by law enforcement agencies in the US and their representatives can access your name, your e-mail address and the amount of DNA you share with the the law enforcement kits. Law enforcement matching is not restricted to US citizens but applies to the entire database regardless of country of residence. If you wish to opt out of Law Enforcement Matching you can do so from the Privacy and Sharing Page. If you wish to understand more about these issues you can read my article for Forensic Science International on Using genetic genealogy databases in missing persons cases and to develop suspect leads  in violent crimes.

With thanks to Mats Ahlgren and Paul R Smith in the ISOGG Facebook group. See also Paul's blog post National Geographic Geno Project DNA ending.

Further reading
Genographic Project prepares to shut down consumer database by Roberta Estes, DNAeXplained

Saturday, 1 June 2019

Consuming genetics: ethical and legal considerations of new technologies - videos online

The Petrie-Flom Center at Harvard Law School recently held their annual conference which was devoted to the subject  of “Consuming genetics: ethical and legal considerations of new technologies”. They very kindly recorded all the talks and have made them available online. You can access them from this link:

I've only had time to watch a few of the talks so far but so far they are all of very good quality. I highly recommend that you take time to watch the very moving talk from Kif Augustine-Adams on "Generational failures of law and ethics: rape, Mormon orthodoxy, and the revelatory power of Ancestry DNA". It is a first-hand account of the disruptive power of genetic ancestry testing and the effects on families when long-held secrets are uncovered and promises of anonymity are breached.

It's also worth watching Liza Vertinsky's talk on "Genetic paparazzi vs. genetic privacy". In the UK DNA theft is illegal thanks to the Human Tissue Act passed in 2004. If you test someone's DNA without their consent you could potentially be put in prison. In the US no such laws yet exist and it is possible to test so-called "abandoned DNA" from discarded items without the individual's consent. I suspect it's only a matter of time before a celebrity's privacy is breached by testing their DNA without consent which is likely to cause a big backlash and encourage the introduction of new legislation.

I also recommend watching Natalie Ram's session on "Genetic genealogy and the problem of familial forensic identification" which is very topical in light of the current debates about law enforcement usage of genetic genealogy databases. Natalie highlights the inter-relatedness of DNA which means that informed consent becomes a non-issue. Even if you don't want to upload your DNA to GEDmatch, if your sister exercises her right to share her DNA you could still be caught up in a criminal investigation and have your family tree and your social media accounts trawled by the police.