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Genetics and genomics

77 articles · Since 2011

Physicians and patients writing on KevinMD about genetics: consumer DNA tests and what a binary result leaves out, precision medicine and where it fails patients, inherited disease, gene editing and immunotherapy, epigenetics, and the warning signs that eugenics is returning under new names.

Latest articles

Conditions and diseases

Homocysteine and glutathione: the detox link we skip

Most conversations about a homocysteine genetic problem stop at the blood number, the methylation genes, or a vitamin plan. That misses the backside. Homocysteine sits at a biochemical fork. One branch remethylates it back toward methionine. The other, transsulfuration, feeds…

Most conversations about a homocysteine genetic problem stop at the blood number, the methylation genes, or a vitamin plan. That misses the backside. Homocysteine sits at a biochemical fork. One branch remethylates it back toward methionine. The other, transsulfuration, feeds cysteine into the making of glutathione, the body’s main intracellular antioxidant and a central Phase II detox carrier.

In my practice, I believe transsulfuration supplies well over half, and often most, …

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Homocysteine and glutathione: the detox link we skip

Health policy

Genetic screening should not wait for a health crisis

Pregnancy. Marriage. A cancer diagnosis. A sick child. A family tragedy. Too often, something must happen before we start asking what our DNA might tell us. It shouldn't. Genetic screening and education should become a more normal and accessible part…

Pregnancy. Marriage. A cancer diagnosis. A sick child. A family tragedy. Too often, something must happen before we start asking what our DNA might tell us.

It shouldn’t. Genetic screening and education should become a more normal and accessible part of preventive health care, available before a life event or health crisis makes the information urgent.

We already practice prevention. We check blood pressure before a stroke. We measure cholesterol before a …

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Genetic screening should not wait for a health crisis

Conditions and diseases

Why doctors should order the homocysteine test more often

Every week I meet a patient who has already done everything "right." They've had the annual physical, the lipid panel, and the metabolic panel. They're still sick: tired, foggy, inflamed, and sometimes carrying a fatty liver that nobody can explain.…

Every week I meet a patient who has already done everything “right.” They’ve had the annual physical, the lipid panel, and the metabolic panel. They’re still sick: tired, foggy, inflamed, and sometimes carrying a fatty liver that nobody can explain. And nobody has checked their homocysteine or asked whether their methylation genetics might be part of the story.

I’ve come to believe that this gap is one of the more fixable …

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Why doctors should order the homocysteine test more often

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Conditions and diseases

Coverage for pharmacogenomic testing hinges on your insurer

Imagine two patients sitting in the same clinic. They have the same diagnosis, are being considered for the same medication, and have the same clinical reason for drug-gene (also known as pharmacogenomic, or PGx) testing. For one patient, the test…

Imagine two patients sitting in the same clinic. They have the same diagnosis, are being considered for the same medication, and have the same clinical reason for drug-gene (also known as pharmacogenomic, or PGx) testing. For one patient, the test is covered. For the other, it is not. The difference may have little to do with the clinical evidence. It may come down to their insurance.

That is the access problem …

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Coverage for pharmacogenomic testing hinges on your insurer

Health policy

What a baby’s gene therapy owes to curiosity-driven research

Some research starts with an obvious destination: a disease to treat, a test to build, a technology to improve. Other research begins much earlier, with a question about how nature works and no clear application in sight. The difference can…

Some research starts with an obvious destination: a disease to treat, a test to build, a technology to improve. Other research begins much earlier, with a question about how nature works and no clear application in sight. The difference can make the first kind of research seem more useful and the second more difficult to justify. But by the time a scientific problem has a recognizable clinical or technological solution, …

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What a baby’s gene therapy owes to curiosity-driven research

Conditions and diseases

Living with glycogen storage disease into adulthood

Both Julieta and Rob went through long, uncertain paths to receiving a correct diagnosis. Julieta was born in 1987 outside a major city in Argentina. Very little information about glycogen storage disease (GSD) was available at the time. Her symptoms…

Both Julieta and Rob went through long, uncertain paths to receiving a correct diagnosis.

Julieta was born in 1987 outside a major city in Argentina. Very little information about glycogen storage disease (GSD) was available at the time. Her symptoms started when she was two months old: failure to thrive, hypoglycemia, and constant crying. Local pediatricians could not diagnose her, and she was referred to a nearby center, then another center …

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Living with glycogen storage disease into adulthood

Physician voices

7 red flags that eugenics in medicine is returning

Adapted from The New Eugenics in Medicine: Two Novellas About Power, Science, and the Future of Human Worth. My recent article in The Pharos, "Eugenics Is Having a Quiet Revival, and Medicine Must Respond," began with a premise that is…

Adapted from The New Eugenics in Medicine: Two Novellas About Power, Science, and the Future of Human Worth.

My recent article in The Pharos, “Eugenics Is Having a Quiet Revival, and Medicine Must Respond,” began with a premise that is easy to state but harder to live by: Eugenics should not be treated as a safely quarantined historical episode. Its most dangerous legacy is not a particular …

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7 red flags that eugenics in medicine is returning

Physician voices

Why early detection technology and precision medicine are failing patients

The tools to detect serious disease years before symptoms appear already exist. What we are waiting on is a health care system structured to use them. Early in my career in primary care, I watched patients with vague symptoms and…

The tools to detect serious disease years before symptoms appear already exist. What we are waiting on is a health care system structured to use them. Early in my career in primary care, I watched patients with vague symptoms and normal lab results get dismissed as anxious or mildly depressed. While some were, others were experiencing the very earliest stages of disease. Signals that more advanced diagnostics would have caught, …

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Why early detection technology and precision medicine are failing patients

The Podcast by KevinMD

Genetic testing requires more than just a binary result [PODCAST]

Fertility specialist Oluyemisi Famuyiwa discusses their article "Why carrier screening results are complex." Oluyemisi explores the transition to "Genetic Carrier Screening 3.0," a new era where expanded panels reveal hidden complexities that defy simple positive or negative interpretations. The conversation…

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Fertility specialist Oluyemisi Famuyiwa discusses their article “Why carrier screening results are complex.” Oluyemisi explores the transition to “Genetic Carrier Screening 3.0,” a new era where expanded panels reveal hidden complexities that defy simple positive or negative interpretations. The conversation highlights how specific variations in genes like CFTR and SMN1 …

Read more…

Genetic testing requires more than just a binary result [PODCAST]

Conditions and diseases

How DNA and hormones shape who we are

We move into every new year carrying beliefs from previous years. Scientific confusion and unresolved questions can sometimes cause society and families to become intellectually and emotionally divided. Centuries ago, we thought the Earth was flat and the center of…

We move into every new year carrying beliefs from previous years. Scientific confusion and unresolved questions can sometimes cause society and families to become intellectually and emotionally divided.

Centuries ago, we thought the Earth was flat and the center of the universe, and we feared that sailing exploration would send us over the edge of a cliff. Sir Isaac Newton tried to explain gravity, but now this discussion extends even further …

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How DNA and hormones shape who we are

Conditions and diseases

My husband’s rare drunken disease made me an international advocate

Can you imagine waking up drunk, or getting drunk in the middle of your workday without having touched a drop of alcohol?! When I first saw my husband Joe having these drunken episodes, I thought he must be secretly drinking…

Can you imagine waking up drunk, or getting drunk in the middle of your workday without having touched a drop of alcohol?! When I first saw my husband Joe having these drunken episodes, I thought he must be secretly drinking or at least sleepwalking to the liquor cabinet.

He’d been having weird episodes for six years and got checked out by a neurologist, an endocrinologist, a cardiologist, and other specialists, but …

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My husband’s rare drunken disease made me an international advocate

Conditions and diseases

It’s time for more genomics education in nursing

Genetic testing is now the standard of care for common diseases such as cancer and heart disease, predicting risk and enabling earlier and more effective patient care. It's an exciting revolution in patient care that has far-reaching potential and continues…

Genetic testing is now the standard of care for common diseases such as cancer and heart disease, predicting risk and enabling earlier and more effective patient care. It’s an exciting revolution in patient care that has far-reaching potential and continues to grow and expand. But in Canada, we are not using all of our health human resources to take advantage of this important transformation in health care.

What’s missing are …

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It’s time for more genomics education in nursing

Drugs and prescribing

How gene editing and immunotherapy are changing lives

When I started medical school thirty years ago, and learned about the discovery of streptomycin, I wondered what it must have been like for the doctors who first used it to cure the "white death." How satisfying it must have…

When I started medical school thirty years ago, and learned about the discovery of streptomycin, I wondered what it must have been like for the doctors who first used it to cure the “white death.” How satisfying it must have been to tell a previously hopeless patient, “We can cure you.”

What brought this to mind was my rotation at an old part of the hospital where I was training. I …

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How gene editing and immunotherapy are changing lives

Conditions and diseases

Genetic testing may help cure or condemn those who suffer from addiction

In a recently published study, it was found that a set of 4 genes (JUN, CEBPB, PRKCB, ENO2, or CEBPG) was shown to predict the diagnosis of heroin addiction with an accuracy rate of around 85 percent. This is an…

In a recently published study, it was found that a set of 4 genes (JUN, CEBPB, PRKCB, ENO2, or CEBPG) was shown to predict the diagnosis of heroin addiction with an accuracy rate of around 85 percent. This is an amazing development and could open the door to knowing who is at high risk of opiate addiction before the prescription is written. If similar markers can be found for …

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Genetic testing may help cure or condemn those who suffer from addiction

Conditions and diseases

Epigenetics and our inheritance to future generations

The concept of epigenetic inheritance is fairly recent, having emerged in the late twentieth century. Yet, epigenetic inheritance is gaining more and more attention and interest in the scientific community. Research on epigenetic inheritance continues to be published in the…

The concept of epigenetic inheritance is fairly recent, having emerged in the late twentieth century. Yet, epigenetic inheritance is gaining more and more attention and interest in the scientific community. Research on epigenetic inheritance continues to be published in the world’s foremost scientific journals, such as a study recently published in the journal Nature Communications. What is epigenetic inheritance, and what makes it so interesting to the scientific community?

A …

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Epigenetics and our inheritance to future generations

Conditions and diseases

Rubinstein-Taybi syndrome: Understanding a rare disorder and supporting patients and families

Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by a broad spectrum of clinical features, including intellectual disability, growth retardation, and distinct craniofacial and limb abnormalities. Named after Dr. Jack Rubinstein and Dr. Hooshang Taybi, who first described the…

Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by a broad spectrum of clinical features, including intellectual disability, growth retardation, and distinct craniofacial and limb abnormalities. Named after Dr. Jack Rubinstein and Dr. Hooshang Taybi, who first described the syndrome in 1963, RTS remains an area in which the medical community has limited understanding, diagnosis, and treatment options. Improved awareness and research efforts are needed …

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Rubinstein-Taybi syndrome: Understanding a rare disorder and supporting patients and families

The Podcast by KevinMD

An inside look at the orphan drug revolution [PODCAST]

Join us as we explore the history and evolution of the orphan drug revolution with James Geraghty, a health care executive. Discover how the pharmaceutical industry of the 1970s, driven by a pursuit of predictable profitability, led to the neglect…

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Join us as we explore the history and evolution of the orphan drug revolution with James Geraghty, a health care executive. Discover how the pharmaceutical industry of the 1970s, driven by a pursuit of predictable profitability, led to the neglect of rare diseases and the rise of the orphan drug revolution. …

Read more…

An inside look at the orphan drug revolution [PODCAST]

The Podcast by KevinMD

Chris Hemsworth and personalized medicine: How genetic testing can impact your health [PODCAST]

Today, we're discussing the news about actor Chris Hemsworth and his genetic test results. Hemsworth announced that he is taking a break from acting after learning that he has a heightened risk of developing Alzheimer's disease. Our guest today is…

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Today, we’re discussing the news about actor Chris Hemsworth and his genetic test results. Hemsworth announced that he is taking a break from acting after learning that he has a heightened risk of developing Alzheimer’s disease. Our guest today is Ani Rostomyan, a nutrigenomics pharmacist, who will provide some insight and …

Read more…

Chris Hemsworth and personalized medicine: How genetic testing can impact your health [PODCAST]

Physician voices

The DNA of entrepreneurs: How your genes could determine your business success

Creating something new, taking calculated risks, and effectively allocating resources are all aspects of entrepreneurship. Both environmental and genetic variables play a role in this intricate process. This article will examine how a person's propensity to become an entrepreneur is…

Creating something new, taking calculated risks, and effectively allocating resources are all aspects of entrepreneurship. Both environmental and genetic variables play a role in this intricate process. This article will examine how a person’s propensity to become an entrepreneur is influenced by genetic and environmental factors that drive entrepreneurship.

Personality qualities and risk tolerance are critical genetic determinants of entrepreneurship. These characteristics can influence an individual’s approach to entrepreneurship and can …

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The DNA of entrepreneurs: How your genes could determine your business success

The Podcast by KevinMD

Think about genetics in heart disease [PODCAST]

"Despite these high numbers, we cardiologists often look to genetic screening last in our diagnostic workup. But without genetic screening, we can’t always see the whole picture in our cardiomyopathy patients. Once we’ve excluded coronary disease as an etiology, available…

Listen on Apple Podcasts · Spotify

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“Despite these high numbers, we cardiologists often look to genetic screening last in our diagnostic workup. But without genetic screening, we can’t always see the whole picture in our cardiomyopathy patients. Once we’ve excluded coronary disease as an etiology, available diagnostic tools such as echocardiography and magnetic resonance imaging provide great …

Read more…

Think about genetics in heart disease [PODCAST]

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