Introduction
As the market for DNA tests for genealogists matures, it has been natural for the genetic genealogy companies to leverage their customer base into further DNA testing. Recently genetic genealogy companies MyHeritage, LivingDNA and Ancestry have all announced DNA tests for the “health” market. This is a natural commercial fit for the companies, and indeed one that 23andMe has always utilised. Whilst all genealogy companies have this potential for cross-selling and data mining I believe that Ancestry especially, this is a potential gold-mine. They have all the right ingredients to build this market; the largest subscriber base of genealogists and a mostly US customer base that has already used DNA testing for genealogy and live in a country with probably the most advanced health-care system in the world. This, you would think, is the perfect storm for Ancestry to emulate the success 23andMe has had in creating the commercial tie-up with pharmaceutical giant SmithKline Beecham.
For the demand side there are also drivers. The increased understanding of the genetic causes of some illnesses combined with the increased public awareness of the availability of DNA testing means that consumers are much more willing to seek information on their own genetic risks.
Ancestry’s entry into the DNA health market is twofold. There is a rather useful announcement on the products, from which I’ve culled most of the intelligent text below.
AncestryHealth Core™ – this is Ancestry’s “Base” offering. The test you take is a basic DNA Microarray test. The results you get back cover “a set of curated, common ‘need to know’ health conditions and includes printable family health history and lab reports people can share with their healthcare provider ” The actual test is aiming to identify “heart disease, hereditary cancers, blood-related disorders, and risks for carrier status of health conditions, such as Tay-Sachs disease.” This tests cost US $149 or US $ 49 for people who have already taken the existing Ancestry genetic genealogy test.
AncestryHealth Plus is an altogether more-interesting and comprehensive test. For a start the test is using NGS (Next Generation Sequencing) to sequence the exome (the protein-coding regions of genes). The test is therefore “providing both greater coverage of DNA differences for each condition and more risk categories such as those related to potentially developing heart disease, cancers, and disorders related to blood, the nervous system and connective tissues“. The pricing model is also different. When the test is available (which is sometime in early 2020) it will cost US $199 with a six-monthly subscription cost of US $49. “The ongoing membership will include quarterly screening updates, more educational resources and enhanced tools for family health history and healthcare provider collaboration” The key concept here is that the health results will be continually updated on the basis of new research findings on health-affecting DNA issues.
With both tests the purchaser will have the tests ordered for them by a physician (part of PWNHealth group). This neatly side-steps any issues with the US Food and Drug Administration dept. As you may have gathered from the description of the service, at least initially, will only be available to US residents (with the exception of New York, New Jersey and Rhode Island residents who appear to be restricted from ordering by state laws)
What can I learn about my genetic health ?
Given all of the above I have been curious as to what my personal genealogical knowledge could add to understanding of my health and my health risks. In addition I wanted to see the potential genetic health information that Ancestry could “mine” from my online family history. I was also inspired by this blog posting from genetic councellor Brianne Kirkpatrick “DNA Testing and Family Medical History: A short Intro for Genealogists“
At this point I should mention that this blog posting will naturally cover some of my and my family’s heath issues. I have been in two minds about making such personal information public, but since my parents both died over a decade ago I do not feel that such information needs to be kept private and my own health information isn’t really so shocking.
For this investigation I thought I would look at my health information in two ways. Firstly I will utilise the information that it typically available to most folks through their family network, for example, the illnesses and causes of death of my parents and grand-parents. The second approach is to put on my genealogist’s hat and look at the information that I have as a typical genealogist might dig up. Specifically I wanted to research the causes of death of all my 16 great-great-grandparents (which is the last generation I have complete knowledge of).
Before I dive into discussing health issues and there possible genetic causes please remember that I’m not a doctor and am, to be honest, I’m “winging it” based on the knowledge obtained from quick Google searches.
The Causes of Death of my Parents and Grandparents
Let’s start with my Grandparents. Unlike many people I had little experience of my grandparents – two died before I was born, a third before I was six years old, which left my grandmother who was senile for most of the time I knew her. Whilst part of this is due to a family “tradition” of marrying late it does at least suggest that I should check my grandparents health issues.
Below is the raw data on my grandparents’ deaths as I remember it from discussions with my parents and as culled from their death certificates.
Person |
Age |
Cause of Death (Family Lore) |
Cause of Death (Death Certificate) |
Paternal G-father |
46 |
failed Thyroid operation |
1.a. Cardiac degeneration
1.b. Ophthalmic Goitre *
1.c. Operation Thyroidectomy |
Paternal G-mother |
93 |
Old Age |
1.a Bronchopneumonia
1.b. Congestive cardiac failure |
Maternal G-father |
76 |
Cancer |
1.a Cachexia
1.b. Carcinoma of Stomach (Operation) |
Maternal G-mother |
79 |
A stroke |
1.a. Cerebral haemorrhage |
Looking at this data it seems there are more problems with the data than information. Specifically this data, taken at face value:
- says nothing about their illnesses and general health before their deaths. I’ve no idea, for example, if any of them smoked during their lives. Just as importantly I’m not really sure about any other illnesses they may have had through their lives.
- needs to be read in the context of their environment. All of my grandparents came from relatively poor backgrounds. Their diet and lifestyle would reflect this. Given that they lived through both World Wars, it’s possible their health was further affected by food shortages they experienced during their lives.
- Medical terminology baffles me. Whilst the internet provides me with the explanations it still requires me to understand and interpret this information.
Still there are a couple of important data points that need to be observed.
- Three out of four grandparents actually lived reasonably long lives. My maternal grandfather, who I imagined dying early from cancer, was actually 76 at his death.
- My paternal grandfather clearly had some sort of thyroid health issue. He appears to have had Graves’ Disease. From my genealogy research I found his Army discharge records from 1917, some 15 years before his death, here it stated he was discharged due to “Exopthalmic Goitre”. Researching if this is a genetic condition led me to the website of the U.S. National Library of Medicine which states that “Most of the genetic variations that have been discovered are thought to have a small impact on a person’s overall risk of developing this condition“, so I’m hoping I’m in the clear for inheriting this.
My parents’ deaths provide some more data. As before interpretation of this information seems to be the hard part:
Person |
Age |
Cause of Death |
Cause of Death (Death Certificate) |
Dad |
78 |
Heart Attack, Stomach Cancer |
1.a. Cardiac degeneration
1.b. Ophthalmic Goitre *
1.c. Operation Thyroidectomy |
Mum |
72 |
Motor Neurone Disease |
1.a Bronchopneumonia
1.b. Congestive cardiac failure |
Clearly both of them had medical conditions that resulted in their deaths.
- As my Mum experienced Motor Neurone Disease (MND) is a horrible illness and there are four known genes (C9orf72, SOD1, FUS and TARDBP) that may play a part in people developing “familial MND”. However, familial MND only covers 1 in 15 people who are affected by MND. As an information sheet from the Oxford University Hospitals department says “the absolute lifetime risk of any individual developing MND is roughly 0.3 percent, a small increase in risk still means that the chance of developing the disease for anyone with a relative with sporadic MND is still very low.” If MND is a condition you are concerned about, this information on “Is MND Hereditary” is an excellent primer.
- My Dad’s death was more complicated. He was diagnosed with stomach cancer, but was also suffering from problems with his heart. This, however, all occurred within the the last six months of his life, when he was already relatively old. I know he smoked during his youth, but I don’t know for how long and how much. Given this and what else I know of his health, it’s hard to see that there was a significant genetic cause for his death.
The deaths of my Great Great Grandparents
Approaching the issue of Family Health from the genealogist’s perspective I looked at the causes of the deaths of my gg Grandparents. The first thing I realised was that I knew very little about their deaths, sometimes not even when exactly they died. This is due the approach genealogists typically take. We tend to research in our ancestors mostly to confirm their position in the family tree. This means that we research their births and marriages through birth and marriage certificates. In Great Britain a birth certificate will normally confirm the parents’ names whilst a marriage certificate will record the bride and grooms Fathers’ names and their occupation. Once our ancestors are married and have given birth to the next generation they are, in some sense, of less interest – they have performed their biological function.
My first task here was to order up most of the death certificates for my g-grandparents. The results are collated below:
Person |
Age |
Died |
Cause of Death (Death Certificate) |
George Grass |
86 |
15-Dec-1915 |
1. Pleurisy (infection) 2. Cardiac Failure |
Charlotte Whittle |
75 |
18-Dec-1895 |
…deceased hanged herself … whilst temporarily Insane |
Horace Basham |
87 |
27-Jun-1921 |
Senile Decay |
Eliza Bowers |
83 |
21-Sep-1915 |
Senile Decay |
George Lambert |
66 |
16-May-1890 |
Chronic Bronchial Catarrh, Senile Decay |
Sarah Readman |
81 |
17-Apr-1913 |
Senile Decay, Cardiac Failure 5 days |
John Sturdy |
49 |
18-Jan-1868 |
Double Pneumonia of 36 hours |
Jane Bendelow |
76 |
20-Oct-1903 |
Cerebral haemorrhage 4 days Hemiplagia & |
John Smith |
66 |
23-Aug-1991 |
Paralysis 7 days, Hemiplegia |
Mary Hall |
80 |
01-Oct 1897-1901 |
Gastro Enteritis |
Thomas Cornforth |
75 |
22-Jan-1895 |
Cardiac Disease |
Ann Atkinson |
71 |
21-Jul-1891 |
Acute Laryngitis 24 hours Tracheotomy 4 hours |
John Stewart |
66 |
11-Oct-1877 |
Cardiac dropsy |
Jane Bell |
76 |
28-Jul-1892 |
Bronchitis |
Thomas Armstrong |
67 |
14-Jun-1883 |
Cirrhosis |
Maria Singleton Angus |
67 |
22-Aug-1886 |
Heart Disease, Dropsy some years Syacope |
If you prefer a more visual image I’ve mapped the location of their deaths.
Looking at the date we can see ancestors lived a reasonable age. Whilst the youngest death died aged 49, the average (mean) age at death was over 73, whilst the oldest lasted until aged 87. Even Charlotte Whittle, who committed suicide, lived beyond the average age of this group. It also shows that my gg-grandparents lived on average as long as my parents and grandparents. They were clearly a strong bunch.
There are a number of problems with this type of analysis:
- The causes of death, as recorded in the late nineteenth and early part of the twentieth century are even harder for me to interpret than later records, especially given my lack of medical knowledge. I honest don’t know what Cardiac Dropsy is (apart from a heart issue). Perhaps this is also indicative of the lack of knowledge of the patients, their family and the local GP who recorded the deaths.
- “Senile Decay” is recorded in three of the deaths. I guess this is typical of the age. It’s very unspecific, although perhaps it’s enough for my research to indicate there is no major-risk issue.
- There is something of a “Survivor Bias” here. All my ancestors were physically fit enough to live to adulthood and have children. Their siblings may have not been so lucky/healthy and may be worth further investigation.
I’ll be honest I was somehow expecting to gain some more insights from this analysis – both from the health perspective and from a family history view.
Final Thoughts
In this research I have deliberately avoided looking at what I could learn from the genetic health reporting that 23andMe and now Ancestry provide. I wanted to concentrate on the information I could find as a genealogist only. For those who have taken DNA tests at other companies there are also a number of third-party sites, like promethease.com who can also provide an analysis of your potential genetic risks.
Clearly, in my case, the history of my parents’ health is the most useful indicate of potential health issues. For any discussions that I would be having with my doctor their illnesses would be the most important to highlight. If/when you are having this type of discussion with a doctor you may find that the “My Family Health Portrait Tool” from the U.S. Center for Disease Control provides an excellent starting point for recording the information that you know about your family’s health.
This brings me to one of the other key points of my research. Understanding health issues for a simple soul like myself is difficult, both in terms of the terminology and the impact illnesses and hereditary conditions will have on your life. As we gain more knowledge of our genetic risks we need to be able to have this information correctly interpreted. Whilst this work can be done through a doctor there is clearly a role for “Genetic Counsellors” to help you evaluate the issues and risks associated with any genetic health issues.
Whilst I’m not a doctor, I suspect that for many people their genetic health risks play a significantly less important role that their lifestyle health risks. The usual recommendations for leading a healthy lifestyle (diet, exercise, smoking and alcohol-use) are probably far more important. On top of this there is always the fact that your life and health could be affected by something other than illness – the proverbial being hit by a bus type of accident (true story – it happened to my brother, he got quite a bang but is OK now)
I suspect the issue of survivor bias is important in this type of research. One thing I know from my genealogical research is how often my ancestors’ siblings died during childhood. I suspect this was often an effect of living in poverty, but there could have been some genetic causes.
Looking at this information from the perspective of the genealogy companies it is clear that it is hard to categorise and sell this type of information, along with your DNA results, to third-parties. 23andMe have always sought to engage with their customer base to understand their health issues and connect them to their DNA. I suspect this is the only way to obtain meaningful health information for their customers.
Finally, as you may have gathered from this article, I’m no health expert. Please feel free to comment on this article if you think I’ve misinterpreted any of the health issues, or if you have any other thoughts on this topic.