Should you have your whole genome sequenced?

Dr. Richard GibbsThink about it – would you want to know what’s in your genes and what possibly lies ahead?

Dr. Richard Gibbs, the Wofford Cain Professor of Molecular & Human Genetics and director of the Baylor College of Medicine Human Genome Sequencing Center said the answer depends on your goals in having your genome sequenced at the recent Evenings with Genetics lecture. Answering these questions is a matter of genetic literacy.

“Genetic literacy is one of the most pressing, powerful social issues today,” said Gibbs, “Distressingly, not everyone gets up in the morning thinking about DNA, so we’ve still got a long way to go!”

Perfect storm

Gibbs said that the intersection of genetics, genomics, healthcare and society is creating a “perfect storm,” which includes:

  • Slow progression of improvements in medicine
  • Assumption of “genetic determinism”
  • The Human Genome Project
  • Improvement of sequencing technologies and proliferation of computers

Society is experiencing the “DNA technical revolution,” in which the costs and time to sequence the genome have decreased significantly, and technology continues to improve.

Sequencing the genome

Keep in mind that genome sequencing isn’t a one-size-fits-all project; there are three options, which include:

  • Whole genome sequencing.
  • Genes-only (or exome) sequencing
  • Sequencing to look for gene markers

Gibbs compares the three options to photograph resolution – either you can get high-resolution photographs (whole genome sequencing), medium-resolution (genes only), or a view from 1,000 feet (gene markers).

The first two options – for “higher resolution” – take place in clinical labs. But the “lower resolution” genetic markers can be identified by a direct-to-consumer test, which just looks at a few million letters of your genes, but will still provide a lot of information.

But who needs all of this information in the first place? Gibbs named some general categories of people who look into genome sequencing: Families with genetic diseases, adults considering having children, individuals who have cancer, a healthy adult who’s curious about what his or her genes contain.

Real-world, famous examples include Dr. James Lupski (vice chair of molecular & human genetics at Baylor and himself a well-known geneticist) and the Beery twins. Lupski is one of the world’s experts in Charcot-Marie-Tooth disease, which affects him and family members. Although he found the first gene for CMT early on, the gene that was the source of the disorder in him and his family remained elusive until he and Gibbs sequenced Lupski’s genome and that of his parents and siblings.

In the case of Noah and Alexis Beery, they had undergone a “diagnostic odyssey” to try to figure out their serious symptoms. One diagnosis of dopamine responsive dystonia gave them some relief, but problems remained. After having their genomes sequenced by Baylor College of Medicine experts, it became clear that part of the problem was also that their nerve cells didn’t make enough serotonin. Experts added a serotonin supplement to their treatment, and they began to thrive.

Who should have genome sequencing?

Both Lupski and the Beery twins found answers to their questions within their genomes. But the question remains – does that mean everyone needs to get genome sequencing?

As someone so heavily involved in genetics work, Gibbs decided to get his genome sequenced – twice, as the technology has improved drastically in recent years. “I’m happy to tell you that my genome is really dull,” he said.

Not everyone’s genome will be that “dull,” though. It’s possible to find information in our genomes that we may not already know.

Answers to these questions bring up more: What would it feel like to know that we’re at risk for something that we can’t necessarily prevent or treat? What are the ethical implications of genome sequencing?

Gibbs believes that you should consider having your genome sequenced if you are:

  • An individual with a genetic risk/disease.
  • Concerned about risks of disease on your family.
  • Curious about your genome.
  • Altruistic, because the information is so valuable to science.

However, he said he sees no reason you should get your genome sequenced if you are:

  • Healthy and simply aren’t interested in genome sequencing.
  • Concerned about your privacy.
  • Concerned about the ethical implications on your family, since your genome isn’t just yours.

What do you think? Would you consider having your genome sequenced? Share your thoughts here and be sure to check for upcoming Evenings with Genetics presentations.

Learn more about the Human Genome Project

3 thoughts on “Should you have your whole genome sequenced?

  1. How do you have your genome sequenced? Where do you start? I have lots of autoimmune problems in my family and would like to know more.

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