Genetics and genomics

77 articles · Since 2011

Articles, page 2

Inside the mind of a medical novel writer [PODCAST]

May 12, 2022May 12, 2022

In this episode, we talk with writer Dustin Grinnell. He takes us behind the scenes on his ideas for his books, his research process, and how he brings medical stories to life. We also delve into the realm of speculative…

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Conditions and diseases

Selectively sharing genetic information in the future

Michael R. McGuire

March 6, 2022Mar 6, 2022

Communicating with relatives that they may share a gene variant that could cause disease is problematic. Maybe you do not want to share that information with other relatives. Maybe other relatives do not want to know about such information. Examples…

Examples of such gene variants are BRCA1 and BRCA2 that predispose women to breast and ovarian cancer and men for some forms of cancer.

Medical practice may make more use …

The Podcast by KevinMD

With Lynch Syndrome, knowledge alone isn’t power [PODCAST]

The Podcast by KevinMD

January 4, 2022Jan 4, 2022

"I imagine I would have, as I’m sure so many others do, headed to the Internet, reading both accurate and inaccurate information. While much of my visit with my genetic counselor feels like a blur, I left that meeting with…

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“I imagine I would have, as I’m sure so many others do, headed to the Internet, reading both accurate and inaccurate information. While much of my visit with my genetic counselor feels like a blur, I left that meeting with a list of answered questions, referrals to specialists, contact …

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Genetic testing’s emotional impact [PODCAST]

The Podcast by KevinMD

December 14, 2021Dec 14, 2021

"Finding out I was gene-positive had hit me harder than I could ever have imagined. How was I to know that my decision to get tested would have such an impact on my life? All of the rehearsing I had…

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“Finding out I was gene-positive had hit me harder than I could ever have imagined. How was I to know that my decision to get tested would have such an impact on my life? All of the rehearsing I had done in the weeks leading up to my results …

Patient voices

The emotional side of genetic testing

Erin Paterson

October 8, 2021Oct 8, 2021

An excerpt from All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness. I had permanent black bags under my eyes from not sleeping properly. I never woke up feeling rested. I hit the…

An excerpt from All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness.

I had permanent black bags under my eyes from not sleeping properly. I never woke up feeling rested. I hit the snooze button three or four times every morning, prolonging the start of each day. One morning, four months after receiving my test results, I swung my legs out …

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The emotional side of genetic testing

Conditions and diseases

The angel of Angelman syndrome

Anonymous

June 30, 2021Jun 30, 2021

If they had asked me to make a wish before I met him, it might have very possibly been for eternal happiness. I'd wish for happiness that floods the air with endless melodies and makes the soul sing, just like…

If they had asked me to make a wish before I met him, it might have very possibly been for eternal happiness. I’d wish for happiness that floods the air with endless melodies and makes the soul sing, just like how a Disney princess. But I had met him first, and he redefined some of the heart’s most beloved concepts.

His eyes were flickering the way golden rays. His giggle sounded …

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The angel of Angelman syndrome

Patient voices

A patient’s perspective on genetic testing

Erin Paterson

May 4, 2021May 4, 20214

I was sitting in a cold hospital room next to my husband, anxiously clutching his hand. The genetic counselor across from us withdrew a piece of paper from a white envelope and placed it on the table. She knew we…

“You have tested positive for the gene that causes Huntington’s disease (HD),” she said.

I didn’t say anything right …

Conditions and diseases

With Lynch Syndrome, knowledge alone isn’t power

Kerry E. Evers, PhD

March 22, 2021Mar 22, 2021

"The blood test shows a genetic mutation at MLH1. You have Lynch." The words were spoken by my genetic counselor the minute I sat in my chair should have hit me harder, but I only felt numb. I glanced at…

“The blood test shows a genetic mutation at MLH1. You have Lynch.” The words were spoken by my genetic counselor the minute I sat in my chair should have hit me harder, but I only felt numb. I glanced at my closest friend, the person they had insisted go with me to the appointment, and watched as tears filled her eyes. I glanced back at the genetic counselor and the …

The Podcast by KevinMD

Genetic testing: Could there be unintended consequences? [PODCAST]

The Podcast by KevinMD

September 20, 2020Sep 20, 2020

"Both clinical and direct-to-consumer genetic testing have become significantly less costly and more common, providing people with access to a wealth of information about everything from their ethnicity and family lineage to their risk for certain diseases and how they…

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“Both clinical and direct-to-consumer genetic testing have become significantly less costly and more common, providing people with access to a wealth of information about everything from their ethnicity and family lineage to their risk for certain diseases and how they will respond to medications such as blood thinners and antidepressants.

But before you decide to take the plunge into your gene pool, …

Conditions and diseases

Genetic testing: Could there be unintended consequences?

Miles J. Varn, MD

April 12, 2020Apr 12, 2020

Both clinical and direct-to-consumer genetic testing have become significantly less costly and more common, providing people with access to a wealth of information about everything from their ethnicity and family lineage to their risk for certain diseases and how they…

But before you decide to take the plunge into your gene pool, there are a number of issues you should carefully …

Physician voices

Jewish identity is so much more than a person’s biology

Ira Bedzow, PhD

February 17, 2020Feb 17, 2020

Recently I made a self-deprecating joke among friends, when one of them said, “that’s so Jewish,” to which another quipped, “What do you expect? It’s in the genes.” The idea of a Jewish gene is not necessarily new, but it…

Recently I made a self-deprecating joke among friends, when one of them said, “that’s so Jewish,” to which another quipped, “What do you expect? It’s in the genes.”

The idea of a Jewish gene is not necessarily new, but it has become more popular and more concerning in recent years. For example, today, direct-to-consumer genetic testing companies, like 23andMe and Ancestry.com, identify people with certain genetic markers as being a percentage Jewish, …

Conditions and diseases

What to consider before undergoing stem cell treatment or banking stem cells

Miles J. Varn, MD

August 30, 2019Aug 30, 2019

It can be difficult to tease out the evidence-based science amidst the claims of successful adult stem cell-based treatments for a range of health problems from joint pain to Parkinson’s disease, macular degeneration, and spinal cord injury. Even a number of well-respected medical centers now offer patients regenerative medicine treatments that use the patient’s own fat or bone marrow cells or extracts created from platelets in their blood.

…

Patient voices

When doctors are right

Sophia Zilber

August 7, 2019Aug 7, 20192

As I was scrolling through my Facebook feed one morning, I noticed an article with a title starting with: "When Doctors are Wrong" with a picture of a newborn baby with a breathing tube in the NICU. I immediately opened…

As I was scrolling through my Facebook feed one morning, I noticed an article with a title starting with: “When Doctors are Wrong” with a picture of a newborn baby with a breathing tube in the NICU. I immediately opened the article and started reading it with interest because my baby also looked this way, so tiny, in the NICU, with lots of tubes all covering her little body.

As I …

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When doctors are right

Conditions and diseases

Are the concerns about consumer genetic tests overblown?

Erik Parens, PhD & Paul S. Appelbaum, MD

August 5, 2019Aug 5, 2019

When the Human Genome Project began in 1990, bioethicists feared that giving people the results of genetic tests would do them a lot more harm than good. Experts feared that individuals who received genetic information about their future health status…

When the Human Genome Project began in 1990, bioethicists feared that giving people the results of genetic tests would do them a lot more harm than good.

Experts feared that individuals who received genetic information about their future health status would be overwhelmed by depression or anxiety. Or as genetic testing became more widely available, it …

Drugs and prescribing

You can save your baby for $2 million. Can we afford to do this?

Edward Hoffer, MD

May 31, 2019May 31, 20193

You can save your baby for $2 million. Can you afford to do this? If you cannot, should we all pay? Spinal muscular atrophy (SMA) is a rare genetic disease affecting the part of the nervous system that controls voluntary…

You can save your baby for $2 million. Can you afford to do this? If you cannot, should we all pay?

Spinal muscular atrophy (SMA) is a rare genetic disease affecting the part of the nervous system that controls voluntary muscle movement. All types of SMA result from a single known cause, a deficiency of a protein called SMN, for “survival of motor neuron.” When SMA symptoms are present at birth …

Conditions and diseases

Will the public be able to resist the pitch from 23andMe?

Michael Kirsch, MD

February 19, 2019Feb 19, 20199

Just because something is legal, doesn’t make it right. Just because we enjoy a right of free speech, doesn’t mean we should be verbally insulting people. Just because the Food and Drug Administration (FDA) approves a treatment or a test,…

The FDA has given approval to 23andMe, a private company, to provide genetic testing directly to individuals. The results provide genetic risks of contracting several …

Conditions and diseases

Is personalized medicine mostly marketing and hype?

Roy Benaroch, MD

January 29, 2019Jan 29, 2019

“Personalized” medicine sounds appealing. Rather than just guessing at what medication to try, a genetic test can figure out, in advance, which medications will be effective and which medications are more likely to make you sicker. Except it doesn’t work.…

Except it doesn’t work. It’s mostly marketing and hype.

The FDA has officially warned consumers and physicians that genetic tests sold to predict patient responses to medications shouldn’t be used. They’re not FDA approved, and in most cases, …

Conditions and diseases

Horrific decisions that no parent should ever have to make

Allison Chang, PhD

January 13, 2019Jan 13, 2019

"Is she in pain?" I asked quietly as the pearlescent baby-shaped image on the screen folded its legs and then extended them. The radiologist doing my ultrasound had just finished pointing out a cluster of alarming abnormalities in our developing…

“Is she in pain?” I asked quietly as the pearlescent baby-shaped image on the screen folded its legs and then extended them.

The radiologist doing my ultrasound had just finished pointing out a cluster of alarming abnormalities in our developing daughter, using a slew of medical terms my husband and I, both medical students, were grimly familiar with. Pleural …

Conditions and diseases

Before ordering a genetic test, get to know GINA

Leonard G. Gomella, MD

November 27, 2018Nov 27, 2018

Health care providers and even consumers who order their own genetic testing should really get to know GINA. Who or what is GINA? Is it some new virtual voice-activated personal assistant? Is she a new Italian superstar? Neither choice is correct. GINA stands for the Genetic Information Nondiscrimination Act, a U.S. federal law that was put in place to protect consumers from discrimination based on their genetic testing. GINA celebrates …

Conditions and diseases

Before you delve into your DNA, be sure to seek out a well-trained genetics team

Jeanne Homer, MA

November 23, 2018Nov 23, 2018

For $199 and a tube of saliva, I found out that I have straight hair and green eyes. Mirrors have been telling me this my whole life for free. But as a genetics counselor, I wanted to learn more about…

What I was left with (aside from the aforementioned physical description and unsurprising heritage data), was the sense that the dangers …

Genetics and genomics

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