Welcome to Gene Info!

This is a website about understanding your genomic data in an era of data encryption, huge healthcare data, and consumer testing companies like 23andMe.

I hope that this webpage is informational and can help you better understand how your genome data affects your life, and how it is kept safe. This short project was developed as a writing assignment for Northeastern University’s Interdiscplinary Advanced Writing course in Summer 2019.

What is my genome?

In short: your genome is just a collection of all of your genes, the chemical instructions that your body uses to grow and live.

More specifically, your genome is a chemical found at the center of each of your body’s millions of cells. Your genome is mostly made of the compound called DNA, which itself is made of a long string of four smaller chemicals, called DNA “bases”, which we abbreviate ‘A’, ‘T’, ‘C’, and ‘G’. (1,2) Most of your DNA is inherited—half from your biological mother and half from your biological father.

DNA is like a recipe book that your cells use to keep you alive. The genetic recipe book is huge: if you printed all of the ‘A’, ‘T’, ‘C’, and ‘G’ letters, it would be over 500 times larger than Proust’s a la recherche du temps perdu, the longest novel written. Your cells use DNA recipes to make proteins, the microscopic machines that keep your body up-and-running. (3)


DNA helix on top of printed DNA
A printed page of DNA bases below a 'double helix' strand of DNA (millions of times larger than life, of course) that that letters represent. Image taken from the U.S. National Institues of Health.


Cells never use all their DNA. Instead, they choose which DNA recipes to make. For example, while muscle and brain cells have the same DNA copy, they make different proteins to perform their different roles.

DNA affects your health, but it’s not the only player. You may have heard about “nature v.s. nurture” in determining traits like blood pressure or personality. Most traits are affected by both genes and the environment. (4) For example, people have different types of the gene that makes insulin, the protein that digests sugars. Because of these genetic differences, people can be more or less likely be overweight or develop diabetes. That’s a nature part. But nurture still matters: someone who eats a dozen donuts for breakfast daily will be at higher risk for diabetes, regardless of their genetics.

  1. The DNA letters stand for the chemicals Adenine, Thymine, Cytosine, and Guanine. ↩

  2. Technically, DNA is made up of smaller chemicals called nucleotides. Nucleotides have three parts, one of which is the DNA base. Since you can tell nucleotides apart by looking at their base (A, T, C, or G), we use those letters to identify them. ↩

  3. Literally! For example, some proteins have designs that look just like modern motors. These structures are so astounding and complex that they have historically been used to argue against the well-established model of evolution. ↩

  4. In fact, there are whole fields of study where traits are given actual numbers to describe how much of that trait comes from genes and how much is from the environment.. ↩

Clinical Genomic Testing

Since DNA can affect your health, hospitals and doctors will sometimes order DNA tests in addition to more traditional medical tests.

There are different types of genetic tests that might be ordered by a doctor. For example, if parents have a family history of a genetic disease like sickle-cell anemia or Tay-Sachs disease, they might have a specific genetic test that checks whether they are likely to give that disease to their children.

Fetuses themselves are often tested as well, both for specific genes (which can cause diseases like cystic fibrosis) and for large changes in chromosomes (1) that can cause diseases like Down Syndrome.

Clinical tests can also be important for diagnosis of susceptibility to certain diseases. This includes testing for the BRCA1/2 genes, which can indicate how likely a patient is to develop a certain types of ovarian and breast cancers. After positve susceptibility testing, some patients may decide to take proactive measures. 2


A NHGRI fact sheet about genetic tests
A fact sheet about genetic testing from the National Human Genome Research Institute, published by the National Institutes of Health and obtained from Michigan State University.


Importantly, most clinical genomic testing is looks for something very specific. In contrast, newer technologies, like sequencing the entire genome or all the DNA that makes proteins, can be used without any particular disease or gene in mind. While these tests can reveal secondary findings, such as the terrifying prospect of accidentally uncovering an incurable genetic disease, there is some promise for such exploratory tests to reveal new insights into complicated traits such as cardiovascular health.

  1. Genetic screening in infants is generally performed through a procedure called amniocentesis. ↩

  2. Angelina Jolie famously undertook a double mastectomy in 2013 after discovering that she carried the BRCA1 gene. ↩

Direct to Consumer (DTC) Tests

Companies like 23andMe, Veritas, Color, and Ancestry market at-home genetic testing directly to consumers.

They work by either sequencing your whole genome or sequencing around one million base pairs in your genome (array-based sequencing).

Let’s start with array-based sequencing. The average person has around 3 billion DNA bases, but only less than 1% of those bases (around 20 million) vary, on average. If you just sequence about a million DNA bases, you can learn some things about health, and a good few things about ancestry.

Ancestry and 23andMe all use array-based sequencing to predict where your ancestors came from. Their ancestry predictions are based on their database of genetic information–so they are usually much more accurate for people of European descent.

23andMe and Color use array-based sequencing to predict health traits. Until last year, none of these tests were FDA approved. Then, 23andMe approval for tests for a handful of genes, including the BRCA1 cancer genes. Still, their results are still not diagnostic, and should not be used to make any medical choices. (1)

Companies like Veritas offer whole-genome sequencing for health purposes, and require a doctor’s order. (2). Instead of just sequencing around one million genetic variants, they sequence the entire, 3-billion base-pair genome, for somewhere between $200 and $1000. Veritas argues that whole-genome sequencing can reveal health (and ancestry) insights that array-based sequencing cannot, but the industry is still poorly regulated and cannot diagnose disease.


DTC testing pipeline
A simple illustration showing how DTC companies let you order online, spit into a tube, and then send you results. This graphic was taken from the personal genomics education project.


Overall: at this point in time, DTC genomic tests should be treated as a novelty. Their ancestry tests are not always accurate, and their health tests have limited uses, and can often cause unnecessary panic.

  1. This is because, for example, BRCA1 does cause cancer, just slightly increases your chances, and having a normal BRCA1 gene does not significantly change your risk for cancer overall. Part of the reason why 23andMe has gotten FDA approval is because their educational material is fantastic (although, some argue that consumers still misinterpret genetic data, since it takes a lot of time and effort to read educational material). For example, you might want to take a look at their BRCA info page. ↩

  2. Companies like Veritas have attracted scrutiny for having a network of doctors who are willing to order genetic tests for essentially anyone who wants them. ↩

How is my genomic data kept safe?

Commercial companies share customer data, but usually on an opt-in basis. ~80% of 23andMe customers agree to let their data be shared for research.

Other companies let people upload their genomes to find relatives. One example is GEDmatch , which was important in resolving the Golden State Killer case.

Websites like GEDmatch are possible because DNA is very similar between relatives. So, even if your DNA has not been sequenced, you can be identified via your relatives.


hypothetical family tree
A hypothetical family tree that shows how websites like GEDmatch can identify you based on DNA from your third cousin. Obtained from a fantastic article published on Harvard Medical School's 'science in the news' website.


Genetic data can be used to discriminate against employees. For example, in 2002 a railroad company forced its employees to undergo a genetic test. They faced disciplinary action but, if genomic data was public, they may have been able to discriminate without attracting as much attention. (1)

So, how liable is your genomic data to becoming public?

Genome testing companies and hospitals encrypt (2) identifying information before sharing data. They then decide whether or not identifying information can be re-accessed with a password (3).

But, even with encryption, genomic data can be re-identified with some effort. And, as we saw with the GEDmatch example, your distant relatives genomes can be used to identify you.

Further, hackers don’t need to reveal whole genomes. For example, when James Watson released his DNA in 2008, he chose to keep the APOE gene–which is associated with Alzheimer’s disease–private. But, based on statistical models, (4) it was relatively straightforward to infer his APOE genotype from his other genes.

The take-away is: whenever you submit your DNA to a company or a hospital, ask about their data privacy practices. Even if small amounts of your DNA sequence are released, it could reveal private aspects of your health and the health of your relatives to individuals and organizations that could discriminate against you on the basis of that information.

  1. The U.S. has the Genetic Information Nondiscrimination Act that bars health insurance companies for discriminating based on genetics, but does not apply to life insurance or employers. ↩

  2. Encryption is just the process of making secret messages. When you were growing up, you may have written secret messages to your friends, and that was a form of encryption. You may have told your friend that letters would be shifted–e.g. “A” actually meant “B”, “B” meant “C”, etc. So the message “Hello” would have been written “Gdkkn”. That is encryption, but mathematicians and computer scientists have developed a lot of sophisticated techniques to make encryption harder to crack than a simple cipher. I think that most articles online about encryption are overly complicated–if you want to read more, I recommend that you start with this simple Wikipedia page to get the idea, and then take a look at the RSA encryption algorithm, which a common modern technique. ↩

  3. This is a pretty dense topic, but it’s absolutely worth getting into, if you have time. This open-access academic paper is a great resource, if you’re interested. ↩

  4. These models are called imputation, and they’re really common in research. It lets researchers use small amounts of genetic testing to reconstruct most of the genome (remember, 99.9% of our genes are identical, so it’s not as monumental of a task as it may seem). ↩

Wrapping Up

Why does this matter, again? Here’s a quick summary of what you learned on this website:

  1. Your genome is the chemical code that determines how your body develops and works on a day-to-day basis.
  2. Hospitals and doctors can determine the sequence of your genome to help determine your susceptibility to certain diseases.
  3. Direct-to-consumer companies like 23andMe will also sequence your genome, but those services cannot tell you much about your health, and should be taken with a grain of salt.
  4. Whether you get your genome sequenced by a doctor or by a company, your personal data will likely be stored in an encrypted database which, if hacked, could make you at risk for data-based discrimination. It is likely wise to be aware of how your data is stored and kept safe.


Thanks for reading! If you’re still hungry for more information, here are some bonus resources:

This is a webpage was made by Julian Stanley using the SinglePaged theme — the source code for this project can be found on Julian’s Github