What if the medication you or your patient takes isn’t working, but you don’t know it?

What if you or your patient carry potentially devastating diseases you or they could pass down to your children?

What if you, or your patient have an increased risk of cancer?

Would you or they want to know?

The HudsonAlpha Institute for Biotechnology debuted a new program called Insight Genome in March 2017. Insight Genome decodes individuals’  DNA to look for answers that could help predict future health and help people make decisions about their care. It is an elective medical test, but eventually the belief is that it will be a standard test. The more genomes that are sequenced, the more the science improves and in time, a patient’s DNA will become that patient’s “blueprint.:

“This is a single test for all current and future genetic tests that are or will become available. No other screening test offers something for everyone–over a lifetime. There is no other medical test like it,” says Howard Jacob, PhD, HudsonAlpha’s executive vice president for genomic medicine.

Genomic medicine is the use of an individual’s genomic sequence– the entire set of DNA that makes your patient unique– to deliver personalized and precise medical care.

“By using whole genome sequencing– basically spelling out the entire genetic code for an individual– we can look at genetic changes that make your patient unique, and identify specific changes in their DNA creating a quantitative family history,” Jacob explains.

The genomic medicine program at HudsonAlpha isn’t new; previously, the institute has focused on rare and undiagnosed diseases. More than 150 children with rare disease have been diagnosed through the institute’s collaborative research and clinical work, and new genes linked to previously unknown conditions have been identified.

Insight Genome, however, is the Institute’s first foray into genomics “for the rest of us.”

“One question that I am continually asked is when can I sequence my genome?” says Neil Lamb, PhD, HudsonAlpha vice president for educational outreach. “We are now able to explore how whole genome sequencing can become transformative for clinical care, and also engage both physicians and patients.

The Insight Genome process is fairly simple. A small vial of blood is drawn and sequenced. Sequencing involves reading all a patient’s DNA — about six billion individual data points. While humans are eerily similar scientifically, they do vary at about four to six million spots in their DNA. Many of those changes are just simple variation, such as eye color or height. Other changes to the DNA, or variants, are medically meaningful.

“Those are the ones we’re concerned with,” says David Bick, MD, a clinical geneticist at the Smith Family Clinic for Genomic Medicine in Huntsville. “Of the variants linked to disease, some are well-established as pathogenic. That means we know there is a high likelihood of them causing disease. Think of changes to the well-known breast cancer gene BRCA1 as an example. Other variants indicate you carry a disease. While you may not have it — like a cystic fibrosis or sickle cell — you have a chance of passing it along to your children. There are also variants of unknown significance. We think they may be harmful, but simply don’t know enough them. Yet.

“The more genomes we sequence, the more we are learning about human variation and what DNA changes increase risk. We’ve come so far since the first genome was sequenced less than 20 years ago. Projects like Insight Genome  are accelerating our discovery,” Bick continues.

Insight Genome is comprised of two genomic clinical tests and must be ordered by a physician:

  • A clinical report. This is medical information you and your physician can use. Pathogenic variants and carrier status are included in this report.
  • Pharmacogenomic report from Kailos Genetics, a HudsonAlpha associate company (pharmacogenomics are how your genes impact your response to medications). The test explores more than 100 different medications and how your body will react to them.

Patients can be seen at the Smith Family Clinic for Genomic Medicine, which is on the HudsonAlpha campus. Dr. Bick and a team of experienced genetic counselors get a medical history and provide pre-testing counseling to explain the nuances of genetic testing.

“It’s important to remember that what you learn about your genome isn’t just yours, it impacts your whole family,” Bick reminds patients. “Before undergoing this testing, we encourage open conversation with family members around just what they would and would not want to know about their potential futures.”

Delivering that type of information is part of Kelly East’s role. She is a certified genetic counselor who helps patients understand just what they’re getting into.

“Not only what their family will want to know, but just what will the patients themselves be comfortable with? Some people don’t want to know about particular disease risk, such as Alzheimer disease. Others want to know absolutely everything. It’s our job to make sure they understand what information they will get, and how it could impact them,” explains East.

For example, while federal law protects people from having their health insurance impacted by genetic testing, those same protections don’t extend to life and long-term disability insurance. And while it is protected health information like any other doctor visit or medical test…

“In this era of social media, people self-disclose a great deal more information than the generations before them. So while it’s not legal for a potential workplace to surf Facebook and learn about your genomic testing and that you may be at higher risk for a certain disease and then not hire you because of it, there’s no absolute guarantee that might not happen,” warns Jacob.

People who decide to do the Insight Genome (and are seen at Smith Family Clinic) also have the opportunity to participate in a unique research study about the impact of genomic sequencing. In the study, researchers at HudsonAlpha hope to learn how the return of genomic sequencing information impacts participants in terms of utility for health, and its perceived utility.

Participants in the study will receive a personalized research report from their genome sequence which contains risks variants in their DNA that are linked through studies to common disease risk. Examples include some types of cancer, heart disease, and musculoskeletal conditions. The research report provided to participants also will give information on specific traits, a noted example being whether one is able to smell asparagus in their urine (not a joke). An app is nearing completion that will delivery information in a digital – and mobile – format.

So who is likely to do Insight Genome?

Howard Jacob explains.

“I’ve had my own genome done. Several other researchers at HudsonAlpha have also been sequenced. Others are discussing it. While I’m lucky and didn’t learn anything catastrophic, I learned very valuable information about medications I take and how one just wasn’t working. That was very useful for me. Adults who want to have children. Who want to empower themselves to engage in better prevention strategies. Who want to do everything they can to be healthy,” Jacob believes.

“We have had people of child-bearing age, and people up into their 80’s. This is a very inquisitive, smart city and there is a lot of interest in science. The reasons people decide to do Insight Genome vary, but we are hearing the same feedback regardless of those reasons: they found it useful.”

Dr. Bick encourages people thinking about genomic testing to have a conversation with their primary care doctor as a first step.

“This works best in a triad of care: you, your doctor, and your genome. The information you learn, that your physician learns, is best explored and acted upon with sound medical knowledge,” Bick says.

While physicians are becoming more comfortable with the integration of genomics in the clinic, some feel they need more training. For that reason, HudsonAlpha held a Genomic Medicine Conference in summer 2016, and plans to hold another in March of 2018.
From April 28-July 28, 2017, HudsonAlpha Clinical Services Lab, LLC., has provided a payment plan for persons having Insight Genome tests ordered through The Smith Family Clinic for Genomic Medicine. The plan allows six months to pay for the test. Call Carol Aiken, operations administrator at The Smith Family Clinic for Genomic Medicine at 256.327.9640

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