DOWNLOADING GENOMIC DATA 

Before you download…

To ensure you understand the risks associated with raw genetic data, we ask that you review the information below. 

What is a genotype?

  • DNA is in almost every one of your cells, and contains the plan for producing proteins.

  • A gene is a specific sequence of DNA that can be translated into one of these proteins.

  • DNA is made up of a string of billions of nucleotides. There are four types of nucleotides which are represented as the letters A, C, T, and G.

  • People share a large amount of their DNA. In fact, 99.9% of these letters are exactly the same in all people.

  • In our research, we are interested in the 0.1% of letters that differ between individuals. There are known as variants, and we know where some of them are likely to occur in your DNA.

  • Genotypes are measures of what your letters are at some of these positions in your DNA.

Learn more here.

What you will download

If you download your data, you will receive a zip archive with 2 files:

  1. A 23andMe-formatted text file (.txt) with the list of about 600,000 positions of your DNA (your raw genotypes) directly measured by the Intern Health Study. The genotypes are quality-controlled but we have made no attempt to interpret your genotypes. For example, we have not attempted to figure out which genotypes may carry disease risk.

  2. One “readme” file with more information.

Download your genotypes only if you want to.

What would you do with your raw genotypes?

  • Interpret your genotypes, which may include:

    • Evaluating if you have certain genetic variants that increase or decrease risk for some disease.

    • Comparing your genotypes to someone else’s, such as a family member.

  • Archive your genotypes, by saving them on your computer for future interpretation by yourself or your children.

  • Share your genotypes with another person, a company, or other organization and allow them to interpret your data.

Each of these options is associated with a variety of potential risks and benefits. Interpreting raw genetic data is difficult and, in some cases, not currently possible. Please exercise great caution if you attempt to interpret your genes, or when sharing your results and asking someone else to interpret your genes.

Can you trust that your genotypes are correct?

  • Generally speaking, we expect a small percentage of your genotypes to be wrong.

  • We do not know where those errors are and cannot correct them.

  • Although we do everything we can to ensure high quality standards in sample handling and data generation, unexpected things can happen and we might not be able to detect such incidents.

For research use only!

  • The Intern Health Study is a research study. The technology and protocols we use are suitable for genetic research, not for clinical genetic testing such as you would receive at a hospital or doctor’s office.

  • Clinical genetic testing is held to higher standards. Laboratories which handle these samples are certified by governmental regulations called CLIA.

  • In the United States, methods used to diagnose disease or recommend treatment must be approved by the FDA. The genotypes we have generated have not been reviewed by the FDA.

  • Our genotype lab is not FDA-approved or CLIA-certified! This approval and certification is not necessary for a research study.

See here for more information.

Computer security

Before you download:

  • We store your genotype files on secure servers at the University of Michigan.

  • When you request to download your genotypes, the files are temporarily pushed to a private location on MiShare, a HIPAA compliant system for securely encrypting and transferring files containing ePHI, research data, and other sensitive information. Your files will automatically be deleted if not accessed within 5 days.

After you download:

  • Your genotype files are copied from MiShare to your computer.

  • Your computer is less secure for storing your genotype files than our servers or MiShare’s servers.

  • Your genotype files may be more accessible to unauthorized access.

Basically, downloading your genotype files may make them less secure.

Risks associated with interpreting your genotypes

If you attempt to interpret your genotypes, or enlist the help of someone else to do so, there is always the possibility of learning something unexpected.

For example:

  • Some individuals may discover through their genes that they were adopted, or their biological parent(s) or sibling(s) may not be who they believed them to be.

  • Some individuals may discover they are at heightened (or lowered) risk for some disease(s).

  • Diagnosing a health condition, typically requires not just a CLIA-certified genetic analysis but also a full assessment of your health, including non-genetic factors.

Make no health or life decisions based on your raw genetic data. Even if there were no errors in your data (which there are!), interpreting these data to draw conclusions about your health will be highly error-prone. If you insist on trying to draw conclusions from these data, please consult your doctor.

Your interpreted genotypes can affect your family

You share some of your genes with your biological parents, siblings, children, and other relatives. Genetic information you learn about yourself could also apply to these people. Please consider that members of your family may not want to know their genetic information and respect their wishes if you plan to interpret your results.

Risks to health insurance and employment

The Genetic Information Nondiscrimination Act (GINA) is a law that protects how your genetic information can be used for insurance and employment purposes. It was passed by the U.S. Congress in 2008.

 

We strongly recommend that you read more about GINA here.

 

  • Basically, you are currently protected by GINA from discrimination for most health insurances, but not disability, life, or long-term care insurance.

  • GINA makes it against the law for employers to use your genetic information against you or to your advantage, but it applies only to employers with 15 or more employees.

 

Please remember that laws change but your genes do not. There is no guarantee that GINA or similar laws will always hold or exist. Also, discussing interpreted results with your doctor may cause them to become part of your medical records, which insurance companies can request when considering premiums and claims.

It is recommended that you consider reviewing your life, disability, or long-term care insurance policies before you attempt to interpret your genetic data.

For further questions

For all questions about the study, please contact us at intern_health@med.umich.edu.