Genetic home testing: why it’s not such a great guide to your ancestry or disease risk – The Conversation UK
Posted: August 9, 2017 at 4:49 am
Genetic variation is an unavoidable feature of life. As a consequence of this and unless you are an identical twin you are genetically unique. You have a distinctive combination of genetic variants, almost all of which are shared with your parents, although shuffled into new combinations. With few exceptions, all of your characteristics, such as hair colour, height, ear wax quality, and disease susceptibility, are influenced by your genetics.
As a consequence, increasing numbers of people want to learn more about their genetic inheritance, which can be driven by a desire to find out whether they are carriers of, or possibly sufferers from, serious genetic disease. Other people are interested in what a genetic test might be able to tell them about their ancestry. Some people are simply curious.
Direct-to-consumer genetic testing companies which provide genetic tests based on a saliva sample that you send in from home have proliferated in response to this demand in recent years. Big names include 23andMe, AncestryDNA and Orig3n.
But what can these tests actually tell you about disease risk? And how reliable are ancestry predictions derived from an analysis of your genetic makeup?
The key problem in understanding both disease risk and genetic ancestry when interpreting someones results is that our knowledge of both is mostly based on studying large populations. The person taking the test will want specific, personal predictions but extrapolating results from population level measures of genetic risk to that of the individual isnt straightforward.
For instance, our understanding of the genetic basis of a given human trait comes from making statistical associations between the trait and a specific genetic variant. For rare genetic diseases, such as Huntingtons Disease, the connection between the disease and the genetic variant that causes it is very strong, so disease risk can be predicted with some confidence. For more common diseases, or traits such as height and BMI, however, there are hundreds of genetic variants that make relatively small contributions to these. Predictions of individual risk in these cases then becomes extremely hard.
The difficulty in making personal disease risk predictions becomes more apparent when you discover that the most comprehensive direct-to-consumer genetic tests look for about 700,000 genetic variants. This sounds like a lot, but it is actually only a fraction of the genetic diversity that exists in each person. And without knowing the full complement of genetic variants, risk predictions for most diseases will be inaccurate. What this means is that at the level of an individual, our understanding of the genetic basis for most human traits is incomplete, complex and messy.
Ultimately, what most people will learn from such genetic tests will be of limited health care value; you are much better off putting the money you would spend on a genetic test towards a gym membership, or a pair of trainers something that will have a proven effect on health and well-being.
Our individual genetic diversity is obviously influenced by our ancestry, and some genetic testing companies will offer to connect you to famous people in the past, or to particular locations. However, here again we encounter the problem of inferring individual narratives from population-based information as what we know about human ancestry comes from studying the genetic histories of populations, not individuals.
And as your genome the complete set of your genes is a patchwork of your ancestors DNA, each segment will have a different pattern of ancestry. This is why scientists have called statements about your ancestry based on genetic testing genetic astrology. Put simply, what genetic testing says about your ancestry may seem personal and precise, but could be true of thousands, possibly millions, of other people.
For instance, if we assumed European ancestry then I wouldnt need to charge your credit card or ask for a cheek swab to tell you that Abd-ar-Rahman III, the founder of the Caliphate of Crdoba (and descendant of the Prophet Mohammed), is your ancestor. Recent studies suggest that every person living in Europe about 1,000 years ago, if they left descendants, is an ancestor of every European today.
This is consistent with an earlier global mathematical modelling approach, which made the more startling prediction that every individual alive several thousand years ago (2,000-5,000BC, depending on the parameters of the model), assuming they left descendants, was the ancestor of every living person today. Everyone. So, without doing a genetic test, I can tell you, whoever you are, that you are descended from the people who founded Mesopotamia, as well as the rice farmers living on the banks of the Yangtze river. And theyre my ancestors, too.
Ultimately, genetic home testing can be an entertaining way of engaging with your genome. However, if you are wanting to get a better perspective on your personal disease risk, these kits are no substitute for professional healthcare services. And they are unlikely to tell you anything profound about your ancestral connections to famous people or locations in history.
This article was amended on August 9 to replace the emperor Justinian I with Abd-ar-Rahman III.
Read more here:
Genetic home testing: why it's not such a great guide to your ancestry or disease risk - The Conversation UK
- A New Price Tag for Breast Cancer Genetic Testing - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- Genetic testing technologies - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- Prostate Cancer Genetic testing - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- Genetic Testing - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- Genetic Testing - One of the Best Things to Happen to Me - littlemamauk - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- BowelGene - genetic testing - Video [Last Updated On: May 4th, 2015] [Originally Added On: May 4th, 2015]
- Genetic Testing Fact Sheet - National Cancer Institute [Last Updated On: May 22nd, 2015] [Originally Added On: May 22nd, 2015]
- Genetic Testing - Genetics Home Reference [Last Updated On: May 22nd, 2015] [Originally Added On: May 22nd, 2015]
- FAQ About Genetic Testing - Genome.gov [Last Updated On: May 31st, 2015] [Originally Added On: May 31st, 2015]
- Regulation of Genetic Tests [Last Updated On: June 9th, 2015] [Originally Added On: June 9th, 2015]
- Types of Genetic Testing - Genetics Home Reference [Last Updated On: June 29th, 2015] [Originally Added On: June 29th, 2015]
- Genetic Testing: What You Should Know - FamilyDoctor.org [Last Updated On: July 3rd, 2015] [Originally Added On: July 3rd, 2015]
- Genetic Testing - BRCA1 & BRCA2 Mutations | Susan G. Komen [Last Updated On: July 6th, 2015] [Originally Added On: July 6th, 2015]
- What is genetic testing? - Genetics Home Reference [Last Updated On: July 6th, 2015] [Originally Added On: July 6th, 2015]
- Genomics |Genetic Testing [Last Updated On: August 24th, 2015] [Originally Added On: August 24th, 2015]
- What is genetic testing? - American Cancer Society [Last Updated On: August 24th, 2015] [Originally Added On: August 24th, 2015]
- Genetic testing - WebMD [Last Updated On: September 2nd, 2015] [Originally Added On: September 2nd, 2015]
- Genetic Testing and Screening | Florida Hospital [Last Updated On: September 2nd, 2015] [Originally Added On: September 2nd, 2015]
- Genetic Testing Toledo OH - DNA Diagnostics Center [Last Updated On: September 29th, 2015] [Originally Added On: September 29th, 2015]
- Genetics - Genetic testing and counselling - NHS Choices [Last Updated On: October 25th, 2015] [Originally Added On: October 25th, 2015]
- Genetic Testing Germantown MD - DNA Diagnostics Center [Last Updated On: February 18th, 2016] [Originally Added On: February 18th, 2016]
- GeneDx | Genetic Testing Company | The DNA Diagnostic Experts [Last Updated On: February 18th, 2016] [Originally Added On: February 18th, 2016]
- Genetic Testing - kidshealth.org [Last Updated On: February 24th, 2016] [Originally Added On: February 24th, 2016]
- BRCA1 and BRCA2: Cancer Risk and Genetic Testing [Last Updated On: February 29th, 2016] [Originally Added On: February 29th, 2016]
- Genetic Testing - Breastcancer.org - Breast Cancer ... [Last Updated On: April 4th, 2016] [Originally Added On: April 4th, 2016]
- Frequently Asked Questions About Genetic Testing - Genome.gov [Last Updated On: April 10th, 2016] [Originally Added On: April 10th, 2016]
- Pregnancy & Prenatal Testing: Genetic Testing for Inherited ... [Last Updated On: April 19th, 2016] [Originally Added On: April 19th, 2016]
- Genetic Testing | Family Caregiver Alliance [Last Updated On: April 19th, 2016] [Originally Added On: April 19th, 2016]
- Genetic Testing - American Medical Association [Last Updated On: April 19th, 2016] [Originally Added On: April 19th, 2016]
- Genetic Testing - Cancer Treatment | CTCA [Last Updated On: April 19th, 2016] [Originally Added On: April 19th, 2016]
- genome.gov - FAQ About Genetic Testing [Last Updated On: April 27th, 2016] [Originally Added On: April 27th, 2016]
- Family Cancer Genetics Program at UC San Diego Moores ... [Last Updated On: May 2nd, 2016] [Originally Added On: May 2nd, 2016]
- Genetic Testing - Benefits, costs, and risks of genetic testing [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Myriad Genetics | Healthcare Professionals | About Genetic ... [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Genetic Testing | Gluten-Free Society [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Genetic testing - Canadian Cancer Society [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Genetic Testing and Molecular Biomarkers [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- genetic testing | Britannica.com [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Genetic Testing: Best Defense Against Breast Cancer? [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Genetic Testing | Issue List [Last Updated On: May 13th, 2016] [Originally Added On: May 13th, 2016]
- Jewish Genetics, Part 1: Jewish Populations (Ashkenazim ... [Last Updated On: June 19th, 2016] [Originally Added On: June 19th, 2016]
- What Is Genetic Testing -- Information About Genetic Testing [Last Updated On: June 23rd, 2016] [Originally Added On: June 23rd, 2016]
- Genetic Testing Report - genome.gov [Last Updated On: June 23rd, 2016] [Originally Added On: June 23rd, 2016]
- Good Laboratory Practices for Molecular Genetic Testing ... [Last Updated On: June 26th, 2016] [Originally Added On: June 26th, 2016]
- Genetics and Cancer | American Cancer Society [Last Updated On: July 18th, 2016] [Originally Added On: July 18th, 2016]
- Genetic testing - FSH Society [Last Updated On: September 22nd, 2016] [Originally Added On: September 22nd, 2016]
- Myriad Genetics | Patients & Families | Genetic Testing 101 [Last Updated On: September 22nd, 2016] [Originally Added On: September 22nd, 2016]
- BRCA1 and BRCA2: Cancer Risk and Genetic Testing Fact Sheet ... [Last Updated On: September 22nd, 2016] [Originally Added On: September 22nd, 2016]
- FAQ About Genetic Testing - National Human Genome Research ... [Last Updated On: September 22nd, 2016] [Originally Added On: September 22nd, 2016]
- Genetic testing - Wikipedia [Last Updated On: November 1st, 2016] [Originally Added On: November 1st, 2016]
- Genetic Testing for Cancer Risk | Cancer.Net [Last Updated On: November 25th, 2016] [Originally Added On: November 25th, 2016]
- Cancer Genetics Risk Assessment and Counseling (PDQ ... [Last Updated On: December 20th, 2016] [Originally Added On: December 20th, 2016]
- Patients Who Tested Positive For Genetic Mutations Fear Bias ... - NPR - NPR [Last Updated On: July 1st, 2017] [Originally Added On: July 1st, 2017]
- Genetic Testing for the Healthy - Harvard Medical School (registration) [Last Updated On: July 1st, 2017] [Originally Added On: July 1st, 2017]
- Genetic testing Overview - Mayo Clinic [Last Updated On: July 1st, 2017] [Originally Added On: July 1st, 2017]
- The real reason why all women should get their DNA tested - Quartz [Last Updated On: July 4th, 2017] [Originally Added On: July 4th, 2017]
- DNA insurance: Why genetic testing could revolutionise the industry - Verdict [Last Updated On: July 4th, 2017] [Originally Added On: July 4th, 2017]
- Everything you need to know about the Government plan for genetic testing to treat cancer patients - BreakingNews.ie [Last Updated On: July 4th, 2017] [Originally Added On: July 4th, 2017]
- Greater access to genetic testing needed for cancer diagnosis and treatment - Cancer Research UK [Last Updated On: July 5th, 2017] [Originally Added On: July 5th, 2017]
- Chief medical officer calls for gene testing revolution - BBC News - BBC News [Last Updated On: July 5th, 2017] [Originally Added On: July 5th, 2017]
- Genetic Testing Facilities and Cost - Breastcancer.org [Last Updated On: July 5th, 2017] [Originally Added On: July 5th, 2017]
- Greater access to genetic testing needed for cancer diagnosis and ... - Medical Xpress [Last Updated On: July 7th, 2017] [Originally Added On: July 7th, 2017]
- Global Breast Cancer Predictive Genetic Testing Market Outlook 2022 - PR Newswire (press release) [Last Updated On: July 7th, 2017] [Originally Added On: July 7th, 2017]
- Invitae: Growth in Genetic Testing - Moneyshow.com (registration) [Last Updated On: July 7th, 2017] [Originally Added On: July 7th, 2017]
- Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete - PLoS Blogs (blog) [Last Updated On: July 7th, 2017] [Originally Added On: July 7th, 2017]
- Hospital gets cardiac genetic test service created in memory of broadcaster's son - Belfast Telegraph [Last Updated On: July 8th, 2017] [Originally Added On: July 8th, 2017]
- David Frost cardiac genetic testing service opens - BBC News - BBC News [Last Updated On: July 8th, 2017] [Originally Added On: July 8th, 2017]
- UK's chief medical officer calls for gene testing revolution in cancer treatment - Daily Nation [Last Updated On: July 8th, 2017] [Originally Added On: July 8th, 2017]
- Konica Minolta buys US genetic test maker in $1B deal - BioPharma Dive [Last Updated On: July 10th, 2017] [Originally Added On: July 10th, 2017]
- Checking the cost of a genetic test - Chicago Tribune - Chicago Tribune [Last Updated On: July 11th, 2017] [Originally Added On: July 11th, 2017]
- Genomic Testing in Oncology: From Single Genes to Whole Genomes - Labiotech.eu (blog) [Last Updated On: July 12th, 2017] [Originally Added On: July 12th, 2017]
- Direct-To-Consumer Genetic Testing Can Be a Trip Down the Rabbit Hole - Newswise (press release) [Last Updated On: July 12th, 2017] [Originally Added On: July 12th, 2017]
- DNA Diagnostics Center brings four genetic testing options to retail - Drug Store News [Last Updated On: July 12th, 2017] [Originally Added On: July 12th, 2017]
- Jeans for Genes Day stall at Taree City Centre - Gloucester Advocate [Last Updated On: July 31st, 2017] [Originally Added On: July 31st, 2017]
- She thought she was Irish until a DNA test opened a 100-year-old mystery - Chicago Tribune [Last Updated On: July 31st, 2017] [Originally Added On: July 31st, 2017]
- Genetic testing: The new way to identify and train elite athletes? - USA TODAY High School Sports [Last Updated On: July 31st, 2017] [Originally Added On: July 31st, 2017]
- Mail order genetic tests for health risks. How much do you want to ... - KOMO News [Last Updated On: July 31st, 2017] [Originally Added On: July 31st, 2017]
- Genetic Testing: Finding the cause of your infertility ... [Last Updated On: July 31st, 2017] [Originally Added On: July 31st, 2017]
- SF's Invitae to acquire two prenatal genetic screening firms - SFGate [Last Updated On: August 1st, 2017] [Originally Added On: August 1st, 2017]
- For Indian doctors, it's written in the genes not stars - Economic Times [Last Updated On: August 1st, 2017] [Originally Added On: August 1st, 2017]