Dr. Adam Jacob has spent his career keeping patients safe in the operating room. As a Mayo Clinic anesthesiologist, he closely monitors every heartbeat and breath, adjusting anesthesia and responding to subtle changes in the body during surgery.

Watch: Mayo Clinic uses DNA screening to prevent life-threatening reactions during anesthesia

Video by: Kevin Sullivan, Senior Communications Specialist, Mayo Clinic

Journalists: Broadcast-quality video (3:31) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

But one risk does not appear on monitors or in a patient's medical history: malignant hyperthermia. The rare, inherited condition can be triggered by certain anesthesia drugs, causing rapid muscle breakdown and a dangerous rise in body temperature.

Without prompt treatment, it can be fatal. Anesthesia teams are trained to recognize malignant hyperthermia, and a lifesaving antidote is kept in every location where anesthesia is administered. 

The risk is written into a person's DNA. 

An unexpected discovery

Until recently, Dr. Jacob did not know he carried that genetic risk. Like many people with malignant hyperthermia susceptibility, he had undergone anesthesia before without incident — the reaction is only triggered by certain drugs. 

"I had no symptoms, no family history and no reason to suspect anything," Dr. Jacob says. "If I hadn't been part of a research study, my first sign could have been an emergency in the operating room." 

An estimated 1 in 2,000 to 3,000 people carry genetic susceptibility to malignant hyperthermia, most without knowing it. Actual reactions are less common and can be prevented when the risk is identified in advance. 

More than a decade ago, Dr. Jacob donated his DNA as part of a Mayo Clinic research study, with no expectation the data would ever circle back to him personally. 

Recent advances in genomics changed that. Through a new study, Dr. Jacob received a letter from Mayo Clinic, followed by a call with a genetic counselor. He learned he carries a variant in RYR1, the gene most commonly linked to malignant hyperthermia. 

Because the condition is hereditary, Dr. Jacob had his two teenage sons tested. Both carry the same variant. Their medical records were updated to guide future anesthesia care, and they now wear medical ID bracelets. 

Dr. Jacob's wife, Kelly Jacob, is a nurse anesthetist, underscoring that even families deeply familiar with anesthesia care can carry this risk without knowing it. 

Dr. Jacob's experience also shows how identifying risks in one person can help protect an entire family. 

Identifying risk before the operating room 

The effort to understand the prevalence of malignant hyperthermia susceptibility is led by Dr. Timothy Curry, a Mayo Clinic anesthesiologist and physician-scientist, and one of Dr. Jacob's longtime colleagues. 

Dr. Curry studies genetic risk at scale through Mayo Clinic's Research Data Atlas, a research platform that connects genomic data with clinical records across the institution. In an analysis of nearly 150,000 individuals, he identified 134 people with variants linked to malignant hyperthermia susceptibility, most of whom were previously unaware 

"Traditionally, malignant hyperthermia declares itself in the operating room. By starting with genetics, we're able to find the risk long before that moment, and that opens the door to prevention rather than reaction."  - Dr. Timothy Curry

The two physicians trained together early in their careers. When Dr. Curry realized that Dr. Jacob was among those identified, the work became personal, he says. 

Dr. Curry's goal is to identify people with previously unrecognized malignant hyperthermia risk before they ever need anesthesia. That early knowledge matters because anesthesia drugs linked to malignant hyperthermia remain essential in emergencies, including trauma cases or when clinicians must quickly secure a patient's airway. 

"Traditionally, malignant hyperthermia declares itself in the operating room," Dr. Curry says. "By starting with genetics, we're able to find the risk long before that moment, and that opens the door to prevention rather than reaction." 

In parallel, Dr. Curry and his team are reviewing medical records for the people identified to see whether any experienced anesthesia reactions before the risk was known. 

Turning genetic findings into clinical guidance 

Identifying genetic risk is only the first step. Making sure it informs care requires ongoing education for providers, patients and families. 

That work involves Dr. Filippo Pinto e Vairo, medical director of Mayo Clinic's Program for Rare and Undiagnosed Diseases, along with a team of genetic counselors. When a potential genetic risk is identified, this team works with patients and families to confirm the finding and explain what it means for their care. The result is then integrated into the medical record so anesthesia teams can plan future care and avoid triggering drugs. 

"This is an extraordinary time in genomics. At Mayo Clinic, we're increasingly integrating genomics into clinical care at scale, and it's changing what's possible across healthcare." - Dr. Pinto e Vairo

That same approach extends beyond malignant hyperthermia. Dr. Pinto e Vairo and the team apply it to a growing range of genetic findings that can meaningfully change care. 

"This is an extraordinary time in genomics," Dr. Pinto e Vairo says. "At Mayo Clinic, we're increasingly integrating genomics into clinical care at scale, and it's changing what's possible across healthcare." 

In addition to malignant hyperthermia, Mayo Clinic researchers are returning genetic results linked to hereditary cancers, heart disease, metabolic diseases and other risks where early knowledge can guide care. 

From reaction to prevention

Genetic testing for malignant hyperthermia risk is now incorporated into Mayo Clinic's preoperative care pathways, shifting anesthesia care from reaction to prevention. 

For Dr. Jacob and his family, that shift transformed a hidden, life-threatening risk into one that can be anticipated, planned for and prevented. 

"This knowledge gives us peace of mind, and a way forward," Dr. Jacob says.

The post (VIDEO) Mayo Clinic uses DNA screening to prevent life-threatening reactions during anesthesia appeared first on Mayo Clinic News Network.

On the Mayo Clinic Radio podcast, Dr. Timothy Curry, education program director at the Mayo Clinic Center for Individualized Medicine, discusses pharmacogenomics testing. Dr. Curry is joined by Dr. Michael Stephens, division chair of Pediatric Gastroenterology and Hepatology at Mayo Clinic, to share how his own pharmacogenomics testing revealed some surprising results. Also on the podcast, Dr. Clayton Cowl, division chair of Preventive, Occupational and Aerospace Medicine at Mayo Clinic, explains the hazards of household cleaners. And Dr. Rozalina McCoy, a primary care physician at Mayo Clinic, shares how her personal cancer journey helped her better understand patient fears.

The post #MayoClinicRadio podcast: 4/7/18 appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. Timothy Curry, education program director at the Mayo Clinic Center for Individualized Medicine, will discuss pharmacogenomics testing. Dr. Curry will be joined by Dr. Michael Stephens, division chair of Pediatric Gastroenterology and Hepatology at Mayo Clinic, to share how his own pharmacogenomics testing revealed some surprising results. Also on the program, Dr. Clayton Cowl, division chair of Preventive, Occupational and Aerospace Medicine at Mayo Clinic, will explain the hazards of household cleaners. And Dr. Rozalina McCoy, a primary care physician at Mayo Clinic, will share how her personal cancer journey helped her better understand patient fears.

Listen to the Mayo Clinic Radio podcast.

The post Pharmacogenomics testing / hazards of household cleaners / cancer journey changes perspective: Mayo Clinic Radio appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. Timothy Curry, education program director at the Mayo Clinic Center for Individualized Medicine, will discuss pharmacogenomics testing. Dr. Curry will be joined by Dr. Michael Stephens, division chair of Pediatric Gastroenterology and Hepatology at Mayo Clinic, to share how his own pharmacogenomics testing revealed some surprising results. Also on the program, Dr. Clayton Cowl, division chair of Preventive, Occupational and Aerospace Medicine at Mayo Clinic, will explain the hazards of household cleaners. And Dr. Rozalina McCoy, a primary care physician at Mayo Clinic, will share how her personal cancer journey helped her better understand patient fears.

To hear the program, find an affiliate in your area.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: Pharmacogenomics testing appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. Timothy Curry, education program director at the Mayo Clinic Center for Individualized Medicine, will discuss pharmacogenomics testing. Dr. Curry will be joined by Dr. Michael Stephens, division chair of Pediatric Gastroenterology and Hepatology at Mayo Clinic, to share how his own pharmacogenomics testing revealed some surprising results. Also on the program, Dr. Clayton Cowl, division chair of Preventive, Occupational and Aerospace Medicine at Mayo Clinic, will explain the hazards of household cleaners. And Dr. Rozalina McCoy, a primary care physician at Mayo Clinic, will share how her personal cancer journey helped her better understand patient fears.

To hear the program, find an affiliate in your area.

Miss the show?  Here's your Mayo Clinic Radio podcast.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: Pharmacogenomics testing / hazards of household cleaners / cancer journey changes perspective appeared first on Mayo Clinic News Network.

ANSWER: Genetics can significantly affect how a person’s body responds to medications. This topic is an active area of study called pharmacogenomics. Many researchers are investigating how pharmacogenomics can enhance medical treatment and tailor medications to best fit a person’s needs, while minimizing the risk of side effects.

Traditionally, medications have been prescribed based on the assumption that a drug will work approximately the same way in each person, with some factors such as age, weight, sex and medical conditions considered. But recent research has clearly shown that’s not always true. And adjusting doses over time based on response to a medication is slow and challenging.

In response, pharmacogenomics — the study of how drugs work coupled with information known about human genes — is being used to tailor medications and their doses for people based on their genetic makeup. This is an important field, because some medications simply do not work the same way in everyone. And genetics may be part of the reason why.

For example, for the pain medication codeine to work properly, the body must be able to convert it into morphine, so it can become active and ease pain. About 15 to 20 percent of the population is unable to metabolize the medication from codeine into morphine due to genetics. That means the medication cannot do what it’s intended to, and those people don’t receive the pain relief they need — even if they take the medication exactly as prescribed.

Other drugs that researchers have identified as being influenced by genetics include some medications used to treat cancer, heart disease, lung disease, HIV infection, arthritis, high cholesterol and depression, among many others. Currently, almost 200 medications have label information regarding pharmacogenomic biomarkers. Pharmacists and prescribers can use pharmacogenomics to pick the right medications and adjust dosing based on genetics.

In addition to affecting how well a medication does or does not work, genetics also can affect the side effects people experience when they take a certain type of drug. In some cases, a standard dose of a medication that’s usually associated with little or no side effects could trigger a more significant response in someone whose genetic makeup predisposes them to react to that medication. When it comes to strong pain killers called opioids, researchers are working to determine how genetics may play a role in addiction to these powerful drugs.

Researchers exploring pharmacogenomics are investigating how best to identify the genetic variations that affect the way medications work. Perhaps just as importantly, they are also looking to identify ways that information can be conveyed in a timely manner to health care providers who prescribe the medications and pharmacists who dispense them, so they can make appropriate choices about which medications to use, based on a person’s genetics.

Research in pharmacogenomics is ongoing and remains in its early stages. Eventually, though, pharmacogenomics may be routinely used to help health care providers give patients customized medication in doses tailored to fit their genetic makeup that will translate into specific, individualized and effective care for each person. — Dr. Timothy Curry, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota

The post Mayo Clinic Q and A: Pharmacogenomics — individualizing medication to improve care appeared first on Mayo Clinic News Network.

On the Mayo Clinic Radio podcast, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking. Also on the podcast, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, discusses rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, share the latest research on pharmacogenomics and pain medication.

The post #MayoClinicRadio podcast: 11/11/17 appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, will explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking.

Also on the program, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, will discuss rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, will share the latest research on pharmacogenomics and pain medication.

Here's your Mayo Clinic Radio podcast.

The post New study aims to help smokers kick the habit: Mayo Clinic Radio appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, will explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking.

Also on the program, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, will discuss rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, will share the latest research on pharmacogenomics and pain medication.

To hear the program, find an affiliate in your area.

Follow #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

Access archived shows.

The post Mayo Clinic Radio: New study aims to help smokers kick the habit appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, will explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking.

Also on the program, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, will discuss rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, will share the latest research on pharmacogenomics and pain medication.

To hear the program, find an affiliate in your area.

Miss the show?  Here's your Mayo Clinic Radio podcast.

Follow #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

Access archived shows.

The post Mayo Clinic Radio: Smoking cessation / rare diseases / pharmacogenomics and pain medication appeared first on Mayo Clinic News Network.