23andMe Update Aims to Diversify Ancestry Composition

Image Source: BBC Science Focus Magazine

In early October of 2019, at-home genetic test service 23andMe informed users of its updated Ancestry Composition reports. This adjustment followed feedback discussing how much data 23andMe pulls from which areas. It also comes from feedback concerning the representation of which ethnic groups their reports cover. The company informed users of their continual updates to such reports as a way “to better reflect the diversity of our customer base.”

You asked, we listened. We’re committed to constantly improving our Ancestry Composition report to better reflect the diversity of our customer base. After hearing customer feedback about the lack of specificity in South Asia, Western Asia, and North Africa, our scientists worked for months to distinguish additional populations in those regions.

We’re excited to share that your Ancestry Composition has been updated to reflect recent improvements to the report. With seven more specific populations for South Asia and eight more populations for North Africa and Western Asia, Ancestry Composition is better than ever.”

The Global Genetics Project led to greater diversity in ancestry reports

Image Source: 23andMe

Previously, 23andMe launched its Global Genetics Project to encourage individuals from underrepresented backgrounds to aid in data collection and analysis. United States residents 18 years and older who are fluent in English with known backgrounds from particular regions were among those the company sought. They emphasized the importance of the individual knowing their background to a certain extent, as their researchers relied on knowing the background of the genetic information they were studying.

All of this seems to have resulted in yet another major update to the Ancestry Composition reports on a user’s 23andMe profile. Users who purchase a kit, submit their saliva, and receive results may learn their ethnic background and health reports, or only their ancestry without the health report. Some individuals do not want such information to hang over their heads, while others, such as those from closed adoptions, may want some idea of their health history.

Asia and Africa are more represented after feedback critiquing the lack of specificity in those regions

Now there are 15 more regions observed in the reports available to users. South Asia has seven more areas, while the remaining eight refer to North Africa and West Asia. They are further broken down by area. For example, it now includes Central Asia (Uzbekistan, Kazakhstan, Turkmenistan, Tajikistan, and Kyrgyzstan), North India, and Pakistan. West Asia and North Africa now specifies if a user has Anatolian roots or Iranian, Caucasian, and Mesopotamian roots. As a result of new information, percentages have also changed for previously established backgrounds.

23andMe boasts that the update now has them covering 1,500 regions around the globe. Hilary Vance, a 23andMe Ancestry Service product manager, stated, “This is another step in our constant push to improve the granularity of ancestry results, as well as folding in even more engaging tools and content for our customers.”

Some genetic information is exclusive to the sex chromosomes

Testing DNA samples to trace ancestry is done in multiple ways. Everyone with an X chromosome will inherit their mother’s mitochondrial DNA. Females pass this on to all their children. Though males inherit this mitochondrial DNA from their mothers, they instead pass on the DNA on their Y chromosome (the paternal haplotype) to their sons only. Mitochondrial DNA has been used to determine haplogroups, based on the unbroken line of maternal DNA from ancestral clan mothers who lived tens of thousands of years ago. Use of mitochondrial DNA has led to successfully closing cases such as identifying the remains of the Romanov family.

Though the information passed on the paternal Y chromosome and maternal X chromosome remain almost totally unchanged, some differences do occur with the passing to successive generations. When they persist, these become markers. These help distinguish different lineages of descent. Appropriately, tests that use this method are known as lineage-based approaches.

Other genetic testing explores information from the autosomal chromosomes

A karyotype, which is a presentation of all chromosomes in a person’s genome. There are autosomal and sex chromosomes, and each have a special purpose. Image Source: Miami.edu

For hobby genealogists, the latest method is to spit into a vial and submit it to companies such as 23andMe, AncestryDNA, and National Geographic’s testing service. These will reference the remaining autosomal (non-sex) chromosomes that make up a person’s DNA. Services such as these utilize admixture testing. Because they observe information from the whole gene pool, including both mother and father, no one side is left out.

A person’s entire DNA bank, their genome, contains the genetic information that makes them who they are. From the color of their hair to the ability (or inability) to process dairy products is determined by the information in that genome. Certain markers exist along these chains of genetic information. These markers, once the genome is broken apart, are analyzed to determine how much of a person’s ancestry comes from where.

Data from an individual’s sample is compared to a reference database, which contains known DNA sequences associated with certain populations. Various sequences are prevalent among some groups of people than others. Varying prevalence results in different percentages.

Labels carry social and political weight for everyone affected

Boundaries that define countries and the various groups within them are ever-evolving, and different people recognize different regions in different ways. For example, some will argue differently about where Iran is considered to be. Based on the time period and who is asked, the answer will change. Purely Middle East? West Asia? Something else?

This dilemma is reflected in census records and other surveys asking an individual to report his or her ethnicity or race. Some instruct the individual to list their race as white if they are from the Middle East no matter their skin tone or ethnic background there. Such approaches have caused confusion and are sometimes met with disputes by affected populations.

These and other issues are exacerbated by the fact that direct-to-consumer (DTC) genetic tests do not always equally represent different continents and regions. Time increases the amount of research and data pulled, But still results are mainly based on individuals of European descent.

Testing for ancestral roots is itself very complex on multiple levels

Image Source: Genetic Literacy Project

Genetic testing is a loaded topic just about anywhere. At its most basic, DTC genetic tests let consumers find out interesting tidbits about themselves, be it related to their ancestry or their genes themselves. Others wish to know about the likelihood any children they have will inherit certain traits or conditions. A couple with glaucoma on both sides may want a solid understanding of their future child’s eye health; knowing this can help them be on the lookout early on for the sake of their child’s vision.

Others, however, point to less pure uses these could be put to. Concerns of an advent of “designer babies” continue to circulate with every year that DTC tests are popular. Additional concerns relate to ethnic ancestry. Some worry if people with insidious intent obtain such personal information. Others still think it perpetuates putting emphasis on something with the potential to divide and isolate people.

Profitable and addictive industries aren’t going anywhere, and so must be carefully navigated

DTC genetic testing is a highly profitable industry. Image Source: Smarter Hobby

But it is unlikely DTC genetic tests are going anywhere. Genetic ancestry testing is a billiondollar industry. In the meantime, fans will submit their saliva to learn about themselves, and critics will discuss the implications of such tests and their results. Sometimes the users and critics are one in the same. All the while, scientists and advertisements alike, both independent and from services like 23andMe, emphasize that genetics is not identity.

And throughout the lifetime of these DTC tests, adjustments will be made as more voices are heard. In the grand scheme of human history, at-home genetic testing, any genetic testing in general, is relatively new. There was a time when many drugs that are currently illegal were not given a second glance. The Sun used to revolve around the Earth, which used to be flat. Time provides wisdom, which eventually produces change when enough determination is present.

For the moment, for 23andMe the necessary change was further diversifying where their data is drawn from and where it points to. Many proponents and opponents alike agree there exists an uneven distribution in which groups are represented in ancestry tests such as these. When someone desires answers, they should have access to them regardless of their background, the very background they desire information on and access to.

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