Unlock your genetic potential or gift the power of personalized health. Browse our Supersaver Packs now.
A glass of wine after a long day may be a great way to unwind. In some people, though, drinking this alcoholic beverage can cause a headache and facial flush after. If you have been that person who has never been able to tolerate red wine, then recent studies report that quercetin, a type of polyphenol in red wine, could be the culprit. Keep reading to learn more about the study and what it concludes. If you love red wine but just can’t handle the headaches, we also have tips on enjoying your favorite drink without struggling with the after-effects.
Did You Know?
Our genes play a big role in how we respond to alcohol. Two key enzymes are involved in breaking down the alcohol we consume. A genetic deficiency in either of those enzymes can result in unpleasant side effects like red flush, nausea, vomiting, hangovers, or even severe toxicity! Learn more.
According to a 2021 report, the total wine sales in the United States in 2021 was $78.4 billion.
This number is only projected to increase in the coming years.
Multiple studies suggest that drinking moderate amounts of wine may help decrease the overall mortality rate, rate of cardiovascular diseases, and premature aging.
Red wine, especially, has higher amounts of antioxidants, essential vitamins, and minerals.
Unfortunately, not all people react well to red wine.
In some, consuming even small amounts of red wine can lead to headaches.
Red wine contains high amounts of certain polyphenols (pigments naturally found in plant-based foods) like tannin and quercetin.
Alcohol is also a rich source of histamines, chemicals that cause allergic symptoms in the body.
For a while now, researchers have been blaming histamines for causing headaches.
Histamine affects the hypothalamic activity in the brain, triggering migraines or contributing to their severity.
However, people who developed headaches after consuming red wine were usually fine with other types of alcohol.
So, the interest has now turned to the polyphenols in red wine.
Once you consume alcohol, the enzyme alcohol dehydrogenase (ADH) in the liver breaks down alcohol into acetaldehyde and other compounds.
Now, another enzyme, aldehyde dehydrogenase (ALDH), rapidly converts acetaldehyde into acetate.
Acetaldehyde is an active metabolite affecting the body and brain, causing various toxic, behavioral, and pharmacological effects.
Recent studies suggest that quercetin may affect the functioning of the aldehyde dehydrogenase 2 (ALDH2) protein.
Quercetin can slow the conversion of acetaldehyde into acetate and, as a result, increase acetaldehyde levels in the body.
One of the side effects of high acetaldehyde levels could be headaches.
A 2023 study published in the open-access Scientific Reports journal proposed a new hypothesis on why red wine causes headaches in certain individuals.
This was not a human-subject testing study.
The researchers picked up chosen samples of red wine for analysis.
HPLC-grade phenolics were procured from Lifescience and pharmaceutical companies in the United States.
The researchers also procured Human recombinant ALDH2 enzyme and other reagents for the study.
The researchers used QuantiChrom™ aldehyde dehydrogenase inhibitor screening kits to measure how different phenolic compounds inhibited ALDH2.
This kit converted acetaldehyde in the red wine into acetic acid and nicotinamide adenine dinucleotide (NADH).
The NADH interacted with a formazan agent, creating a colored substance.
The amount of colored substance absorbed was directly proportional to the enzyme activity, helping researchers understand the relationship between quercetin and the rate of ALDH2 inhibition.
The study observed the effects of different wine phenolics on the rate of ALDH2 inhibition.
The following were the results observed.
| S.no. | Compounds (20 μM) | ALDH2 inhibition (%) |
| 1 | Quercetin glucuronide | 78.69 ± 1.21 |
| 2 | Quercetin | 27.69 ± 0.61 |
| 3 | Tamarixetin | 25.83 ± 1.31 |
| 4 | Quercetin dihydrate | 25.71 ± 2.19 |
| 5 | Myricetin | 21.78 ± 1.56 |
| 6 | Quercetin-3-rhamnoside | 21.46 ± 1.90 |
| 7 | Quercetin galactoside | 20.61 ± 0.79 |
| 8 | Quercetin-7-rhamnoside | 19.58 ± 0.32d |
| 9 | Rutin | 18.53 ± 0.06 |
| 10 | Quercetin glucoside | 17.56 ± 1.84 |
| 11 | Kaempferol | 15.62 ± 0.78 |
| 12 | Catechin | 14.77 ± 0.39 |
| 13 | Epicatechin | 0.34 ± 0.12 |
According to the study, quercetin glucuronide, one of quercetin’s liver metabolites, showed the highest levels of ALDH2 inhibition.
The lowest inhibition was by epicatechin, a flavanol that belonged to the catechin family.
The primary limitation of the study was that it wasn’t human-tested since the study used a standard red wine sample for analysis.
However, there are different kinds of red wines in the world, each with varied quercetin levels. A larger sample could have led to more accurate results.
In human test subjects, specific gene polymorphisms could also affect acetaldehyde metabolism, which wasn’t considered in this study.
This is still a hypothesis, and human studies in the future may be able to verify this more precisely.
Hand-picked Article For You: Could You Have A Wine Allergy?
Thanks to genetic abnormalities, some people’s bodies may be unable to break down acetaldehyde effectively.
This can result in acetaldehyde buildup over time. Red wine contains much higher levels of quercetin.
As a result, drinking even small quantities of red wine can lead to excess acetaldehyde accumulation, leading to headaches.
For instance, studies report that 40% of Asians are born with a dysfunctional gene that does not produce enough ALDH enzyme to convert acetaldehyde into acetate.
In those consuming red wine in excess, quercetin may lead to severe ALDH2 inhibition over time, causing excess acetaldehyde circulation and headaches.
People with existing migraines may also be more susceptible to headaches when consuming red wine.
https://pubmed.ncbi.nlm.nih.gov/10940346/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218803/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218803/
https://pubmed.ncbi.nlm.nih.gov/37985790/#
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10662156/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527032/#
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527032/
https://www.ucdavis.edu/health/news/why-do-some-people-get-headaches-drinking-red-wine
https://www.nature.com/articles/s41598-023-46203-y
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821937/
While a skin rash is common and probably affects millions, when accompanied by severe and prolonged muscle weakness, it could be a cause for concern. Dermatomyositis is an inflammatory condition that causes a distinctive skin rash accompanied by chronic muscle inflammation and weakness. Amyopathic dermatomyositis (ADM) is a subtype of this condition, where the muscle weakness is absent or barely present. Genetic testing is a useful tool in diagnosing conditions, understanding the cause better, and potentially pave the way to personalized treatments and better management. This article explores whether those suffering from ADM can benefit from genetic testing.
Did You Know?
The DNA data from your genetic ancestry test can be used to learn important things about your health, from your risk for heart disease and stroke to food intolerances and sleep disorders. You can upload your DNA data to learn 1,500+ things about your health. Learn more.
Genetic testing analyzes a person's DNA to find gene changes (mutations) that may impact their health.
It tells us about the risk of certain diseases, how someone might respond to treatments or the outlook for their condition.
It also helps understand how children inherit diseases or traits from their biological parents.
For example, it can diagnose diseases caused by a change in a single gene, such as cystic fibrosis (CF).
The key point is that while genetic testing is most definitive for simple single-gene diseases, it can still be useful for decoding complex conditions like ADM, which are a result of changes in several genes.
ADM is a subtype of dermatomyositis (DM) that falls under the category of IIM.
IIMs are rare autoimmune diseases that cause inflammation and damage muscle and other body systems.
DM typically involves both skin rashes and muscle weakness due to inflammation.
ADM is a variation that only affects the skin, causing a distinctive rash without signs of muscle inflammation or weakness.
ADM reveals its unique identity through several characteristics and symptoms that distinguish it from other types of myositis, such as:
Characteristics of ADM
Symptoms of ADM
Violaceous erythema
Macular rash
Papules
Gottron's papules
Gottron's sign
Shawl sign
V-sign
Scalp inflammation
Thinning of the hair
In addition, some patients with ADM may also experience other symptoms, such as:
The exact causes of ADM are unknown. But, it is believed to be an autoimmune disease, where the immune system wrongly attacks healthy cells and tissues, causing inflammation and damage.
Factors like infections, medications, hormones, stress, or genetics might trigger this immune system malfunction.
ADM doesn't follow a straightforward Mendelian inheritance pattern, meaning that a single gene mutation does not result in its inheritance from parent to child.
Instead, ADM is likely influenced by multiple genes interacting with each other and environmental factors.
These genes may impact how the immune system functions or responds to certain Stimuli.
Genetic testing isn't currently the usual practice in clinics for ADM. However, ongoing research suggests that genetic testing may be helpful in the future for:
Understanding the root causes of ADM can be significantly helped by genetic testing.
Identifying genetic risk factors and dysregulated gene expression provides insights into disease mechanisms.
Risk factors are variations in DNA that increase or decrease a person's likelihood of developing a disease.
Dysregulated gene expression is when genes are turned on or off at inappropriate times or levels.
Genetic testing can help identify genetic risk factors and dysregulated gene expression by analyzing different DNA samples from patients with ADM.
These samples may include blood cells (such as white blood cells), skin cells (such as skin biopsies), or muscle cells (such as muscle biopsies).
According to the study, several genetic risk factors and dysregulated gene expression patterns are associated with ADM.
These findings suggest that multiple genes and pathways are involved in the development of the disease.
Some of the key results from the study include:
Genetic testing offers several potential benefits for those at risk of or living with ADM.
It can confirm or eliminate an ADM diagnosis when symptoms are unclear.
Identifying disease-related genes also provides insight into one's prognosis and disease course.
This helps guide treatment plans to improve outcomes and reduce treatment toxicity.
Additionally, testing at-risk relatives allows early screening and counseling to delay or prevent ADM altogether.
Overall, genetic testing helps patients and clinicians understand, manage, and reduce the burden of this complex disease.
Personalized treatments for complex conditions like ADM are crucial to achieve maximum results and minimize potential side effects.
Treatments may involve:
Precision medicine utilizes an individual's genetic, biomarker, and environmental data to develop personalized treatment and prevention strategies. This approach is particularly promising for ADM.
Genetic markers are DNA variations that identify individuals at risk for ADM.
Studies have identified several genetic markers associated with ADM, including variations in HLA-DRB1 and HLA-DQB1.
These genetic markers can help predict the likelihood of developing ADM and may also help guide treatment decisions.
Recent multi-omics research has significantly advanced our understanding of rare autoimmune diseases, particularly focusing on ADM within the broader spectrum of IIM.
IIM, including subtypes like DM and polymyositis (PM), are complex conditions characterized by muscle weakness and elevated muscle enzymes.
These studies use multi-omics data (genomics, transcriptomics, epigenetics, proteomics, and autoantibodies) to understand the complex mechanisms of DM/PM.
Integrating these multi-omics data provides valuable insights into ADM's underlying immune and nonimmune factors, where muscle inflammation is absent.
This comprehensive approach helps identify biomarkers and therapeutic targets, facilitating rapid and accurate diagnosis of rare conditions like ADM.
Advances in high-throughput technologies and systems biology help us understand the details of how genes and molecules work together.
This understanding guides the creation of specific treatments and tools for diagnosing rare autoimmune diseases.
Pharmacogenomics is a rising method in precision medicine, aiming to customize drug selection and dosage based on a patient's genetic characteristics.
Although international scientific groups have issued guidelines, the integration of pharmacogenomics into clinical practice is limited. Ongoing global efforts are working to overcome these challenges.
However, the current established pharmacogenomic markers can only explain a small part of the differences seen in how patients respond to treatment.
New research explores the role of immune system genetics and rare genetic variations in drug metabolism to enhance our understanding.
These advancements are vital to customizing treatments for individuals with ADM, considering their unique genetic makeup for more effective and safer outcomes.
In parallel, studies examined standard treatments for various DM types, including clinically amyopathic DM (CADM), DM with lung issues, and classic DM (CDM).
Results indicate that many patients with DM and lung problems might not respond well to the usual medications.
For classic DM, where oral glucocorticoids are common, researchers are looking into other treatments like methotrexate and calcineurin inhibitors.
Additionally, they are working on new treatments that target cytokines or cell populations assumed to be the disease's origin.
Amyopathic dermatomyositis is a subtype of dermatomyositis that affects only the skin and not the muscles.
Genetic testing is not yet standard practice for ADM, but holds potential benefits for future use.
It could help diagnose at-risk individuals, predict disease progression, and customize treatment decisions based on genetic makeup.
Understanding the root causes of ADM through genetic testing offers valuable insights, identifying genetic risk factors and dysregulated gene expression.
These findings contribute to personalized treatment approaches for achieving effective and safe outcomes.
The integration of multi-omics data and advancements in pharmacogenomics further enhance the understanding and ability to develop treatments for individuals with ADM.
https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425161/
https://www.mayoclinic.org/diseases-conditions/dermatomyositis/symptoms-causes/syc-20353188
https://www.ncbi.nlm.nih.gov/books/NBK558917/
https://pubmed.ncbi.nlm.nih.gov/14689822/
https://nij.ojp.gov/topics/articles/dna-evidence-basics-types-samples-suitable-dna-testing
https://medlineplus.gov/lab-tests/white-blood-count-wbc/
https://medlineplus.gov/lab-tests/skin-biopsy/
https://www.healthline.com/health/muscle-biopsy
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522761/
https://medlineplus.gov/genetics/understanding/testing/benefits/
https://pubmed.ncbi.nlm.nih.gov/29106035/
https://www.sciencedirect.com/science/article/abs/pii/S1568997217302045
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348959/
https://pubmed.ncbi.nlm.nih.gov/31473845/
Imagine a tiny code so powerful it shapes who you are – from the color of your eyes to your love for spicy food. This isn’t science fiction; it’s DNA, the amazing molecule at the core of life itself!
DNA, or deoxyribonucleic acid, is a long, spiraling molecule found in every cell of your body. Think of it as a twisted ladder or a zipper that holds the instructions for building and maintaining an organism. This incredible molecule contains genes, which act like individual recipes for various traits and functions in our bodies.
DNA is the instruction manual for building an organism. It tells cells how to grow, function, and reproduce. These instructions are grouped into segments called genes. For instance, some genes decide your hair color, while others may influence how you digest food. What's fascinating is that tiny variations in this DNA code make each of us unique, contributing to our individual traits and even certain health predispositions.
DNA is not just about the present. It's a record of our evolutionary past. By studying it, scientists have traced human lineages back thousands of years and unlocked secrets of our survival and diversity. Looking ahead, it could be the key to groundbreaking medical treatments and understanding life at its most fundamental level.
Did you know that if you stretched out the DNA in one cell all the way, it would be about two meters long? That's around six feet – as tall as a doorway! Yet, it’s so tiny that it fits snugly into a space smaller than a pinpoint. Also, humans share about 99% of their DNA with chimpanzees and, surprisingly, about 50% with bananas!
Remember, DNA isn’t just biology – it’s the story of life, and you’re a unique chapter in this vast, unfolding book. Stay tuned for more from our "5-Minute Genetics" series, where we’ll unravel more genetic mysteries!
A cleft chin, more famously known as a “butt chin,” is characterized by a dimple or crease in front of the chin. While it is a seemingly harmless trait, it can become pesky at times. From being a tough shaving spot to its increasingly prominent display on your portrait, it can cause minor inconveniences. But did you know that in some places, a cleft chin is considered a beauty trait? Whether you have chosen to embrace it or trying ways to get rid of it, understanding the genetics and inheritance of cleft chin can come in handy.
Did You Know?
The DNA data from your genetic ancestry test can be used to learn important things about your health, from your risk for heart disease and stroke to food intolerances and sleep disorders. You can upload your DNA data to learn 1,500+ things about your health. Learn more.
A chin with a Y-shaped dimple in the middle is a cleft chin. It is a genetic trait.
People with less facial fat will have a more noticeable cleft or dimple on the chin. Cleft chin has had cultural significance in some communities around the world.
In ancient China, a cleft chin was associated with royalty.
This feature is most noticeable when the mouth is closed and the jaw is at rest.
The appearance of a cleft chin can vary in depth and size among different individuals.
Having a cleft chin is a normal variation in human anatomy and is neither a health concern nor a sign of any underlying medical condition.
It's simply a trait that can be inherited, much like eye color or hair type.
Cleft chins are a result of an unfused jawbone.
The shape of your chin is determined even before you are born.
As the fetus develops, the mandible or the jawbone grows from both sides of the head and meets in the middle of the chin.
In some people, the bones don’t fuse, leaving a small gap or cleft.
The skin over the tiny gap is indented, creating the dimple.
A cleft chin is the same as a chin dimple.
It is also colloquially referred to as “butt chin.”
Like our other facial features like eye color, nose shape, etc., a cleft chin is also a strong trait of genetics.
A cleft chin is caused due to mainly two reasons:
A cleft chin is inherited as a dominant trait.
You will receive two copies of a gene at birth from either of your parents.
If one copy is that of a cleft chin, you will likely have one.
However, you might sometimes have a cleft chin even though neither of your parents has it.
A cleft chin is a dominant trait.
A dominant trait means that if you have one copy of the cleft chin gene from one parent, you will likely have a cleft chin.
However, this theory is contested.
Sometimes, you can have a cleft chin even though neither of your parents has it.
This phenomenon is called “genetic penetrance,” a common genetic trait where genes skip a few generations before they appear again.
Since it is a dominant condition, theoretically, even if one biological parent has a cleft chin, there’s a 50% chance that you will also have it.
Genes that control tongue development also control chin development.
Tongue and jaw genes are also linked to the roof of your mouth and have a role in cleft palates and lips.
The genetic marker for cleft chin is located in chromosome 2, called rs11684042.
Cleft chins can appear differently in males and females due to hormonal influences and differences in bone structure. Generally, it might be more pronounced in males.
While genetics play a crucial role in the development of a cleft chin, environmental factors during fetal development can also influence its appearance.
Cleft chin is not something that one can "develop" as they age.
Therefore, a genetic test to understand the likelihood of developing a cleft chin would be pointless.
However, if you are curious about this trait, companies like 23andMe offer a test where they analyze 38 variants for cleft chin.
Even if you do not have a cleft chin, you may contain variants associated with them, which may express themselves in future generations through the previously seen concept called penetration.
A cleft chin genetic test could be a fun way to understand your "hidden traits."
The cleft chin is a Y-shaped dimple on the chin.
It usually happens when the two parts of the jaw bone do not fuse properly, which creates a gap or cleft.
Like many other traits, such as eye color or height, cleft chin also has a genetic basis.
It is hereditary, which means you are likely to have it if your parents have it.
No specific tests identify a gene associated with a cleft chin.
https://udel.edu/~mcdonald/mythcleftchin.html
https://www.healthline.com/health/cleft-chin
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351211/
https://www.mdpi.com/1422-0067/23/2/953
Assisted fertility programs are on the rise globally, and more couples face fertility challenges in their journey to get pregnant. Male infertility is, unfortunately, not as well explored as female infertility. Recent studies suggest that the excess use of smartphones could be one reason behind lowered male fertility rates in the last decade. Researchers believe that electromagnetic radiation from smartphones could affect sperm quality. Also, the more time spent with smartphones, the more severe the effects are. Do read to know how to mitigate this risk and be a ‘smart’ smartphone user.
Smartphones have taken over the world by storm.
Did you know that there are more phones in the world than humans?
Smartphones have made the lives of people easy and hassle-free all around the world.
However, the physiological and psychological effects of being around smartphones all the time are a constant cause for concern for healthcare experts worldwide.
Cell phones emit low levels of radio frequency (RF) signals, and the International Agency for Research on Cancer (IARC) has classified RF signals as possible carcinogens (agents that cause cancer).
Infertility is the inability of a couple to conceive a child naturally after one year or more of having unprotected sex.
Both males and females go through infertility challenges.
According to the US Department of Health and Human Services, 9% of American males have fertility issues, and in one-third of all couples who seek help, male infertility is the cause.
Poor semen quality remains the most common cause of male infertility issues.
The following are some of the reasons for poor semen quality.
Studies suggest that increased use of smartphones may have affected male fertility rates in the last decade.
Experts believe constant exposure to the electromagnetic radiation emitted by phones may affect the male reproductive system by increasing scrotal temperature and oxidative stress.
These, as a result, lead to poor sperm quality and fertility issues.
Hand-picked Content For You: Is Male Fertility Linked To Autoimmune Disorders?
A 2023 study published in the Journal of Fertility and Sterility analyzed the relationship between mobile phone usage and semen quality in young men.
A nationwide cross-sectional study was conducted between 2005 and 2018 to analyze the effect of cell phone usage on male fertility levels.
The study was conducted in six andrology laboratories close to military recruitment centers where the researchers identified participants.
In Switzerland, all men aged 18 to 22 must attend a compulsory military camp to study their fitness to serve the country.
A total of 2886 such young Swiss men were recruited for the study, and the researchers collected their biological samples.
The participants also filled out a questionnaire that asked them questions about their cellphone usage.
According to the study, men who used their phones more than 20 times daily had the lowest sperm concentration (SC) and total sperm count (TSC).
The median values of SC and TSC in men who used their phones >20 times/day were 44.5 Mio/mL and 120 Mio, respectively.
In comparison, the median values of SC and TSC in men who used their phones <5 times/day were 56.5 Mio/mL and 153.7 Mio.
The study reports that men who use their phones >20 times/day have a 30% and a 21% increased risk of having low SC and TSC values, compared to WHO reference values.
The study's primary limitation is that mobile phone usage was measured using self-reported questionnaires.
Hence, the study's accuracy depends on assuming the participants answered truthfully.
Also, the study didn’t include how the participants used their phones (texting, calling, browsing).
The amount of RF energy emitted by a phone depends on its model, generation, the quality of the network, the proximity to the nearest base station, and the use of earphones, among others. This study did not delve into these details.
The researchers conducted the study in three timeframes - 2005 to 2007, 2008 to 2011, and 2012 to 2018. Cellphone technologies have changed drastically in these periods; however, this wasn’t considered in the study.
Low male fertility decreases the chance of couples conceiving a child naturally.
Psychologically, reduced male fertility may cause lower self-esteem, increased anxiety and stress, and increased somatic symptoms (excess focus on specific physical symptoms).
In today’s world, staying away from smartphones may not be a practical solution.
Hence, the following steps may help mitigate the impact of cellphone radiation on male fertility.
You May Be Interested In: Y Chromosome Sequenced: A Pioneering Leap in Human Genetic Research
https://www.fertstert.org/article/S0015-0282(23)01875-7/fulltext
https://academic.oup.com/biolreprod/article/101/5/872/5551192
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727890/
https://www.nichd.nih.gov/health/topics/infertility/conditioninfo/common
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424520/
https://www.cdc.gov/reproductivehealth/infertility/index.htm#
https://rbej.biomedcentral.com/articles/10.1186/s12958-015-0032-1
https://opa.hhs.gov/reproductive-health/understanding-fertility-basics
https://www.fda.gov/radiation-emitting-products/cell-phones/do-cell-phones-pose-health-hazard#:
https://www.cdc.gov/nceh/radiation/cell_phones._faq.html#
https://pubmed.ncbi.nlm.nih.gov/2331455
From a decade ago, when it cost a billion dollars to sequence the entire DNA content, to now getting it sequenced for a thousand dollars, genomic research has come a long way. And we’re not very far from having a smartphone app that’ll warn you of your health risks, suggest medications best suited for you, and even predict the health status of your unborn baby. This is all thanks to one thing: genomics! In this article, we explore how the field of medicine and healthcare has leveraged genomic information to offer effective and personalized solutions to a range of health conditions, from diabetes to cancer. We further touch upon the future of genomic medicine as a tool to revolutionize the healthcare system.
Did You Know?
Genomic medicine is not just employed in clinical settings but is now accessible to consumers so that they can learn in-depth about how their genes interact with health. For those who have already taken an ancestry genetic test, this information can easily be accessed in just 3 steps!
Our DNA is 3 billion letters long - 4 letters, A, T, G, and C, are repeated across the entire length. Sequencing is a technology that allows scientists to decipher the order in which the 4 letters are arranged.
Depending on the application, the entire 3 billion letters may be sequenced (whole genome sequencing), only the part of the DNA that makes protein may be sequenced (exome sequencing), or one particular gene may be sequenced (targetted sequencing).
Using the information from sequencing to improve clinical care and health outcomes through effective diagnosis and personalized treatment is known as genomic medicine.
Genomic medicine is already making huge impacts in many fields of medicine, including:
All human beings are 99.9 percent identical in their genetic makeup.
Differences across individuals in the remaining ~0.1% hold significant clues about their health. Some differences may be harmless, while some others may contribute to disease risk.
With genomic medicine, it is possible to analyze these differences in clinical settings and compare them to many reference sequences.
This information can help understand whether the differences contribute to a disease and determine the best treatment option.
| Term | Description |
| Biomarker | DNA or RNA nucleotides or bases are read in groups of three (e.g., ATG, AUG) called codons. Start and stop codons show when a protein sequence starts or ends. |
| Codon | DNA or RNA nucleotides or bases are read in groups of three (e.g., ATG, AUG), which are called codons. Start and stop codons show when a protein sequence starts or ends. |
| DNA | Deoxyribonucleic acid (DNA) is the carrier of genetic information. DNA consists of four nucleotides or bases (A, T, G, and C). DNA can replicate or make copies of itself. |
| Exome | The approximately 1% of the genome formed only by exons. |
| Exon | The protein-coding sequence of DNA (the part of the genome that is expressed). |
| Gene | A gene is a specified sequence of DNA that serves as the basic unit of heredity. “Gene” comes from the Greek word genea, meaning generation. |
| Gene expression | When a gene is turned on, and its RNA or protein product is being made, the gene is said to be expressed. The on/off state of cells is called a gene expression profile, with each cell type having a unique profile. |
| Genome | The genome includes all of an organism’s DNA, including both exons and introns. |
| Germline | Germline cells are sperm, egg, or embryo cells. Changes to the germline are permanent. Germline traits or mutations are inherited and generational. |
| Intron | The non-protein coding sequence of DNA (the part of the genome that is not expressed). |
| MicroRNA | MicroRNA (miRNA) is a type of genetic material that regulates gene expression. miRNAs are promising biomarkers and can point toward the development of new therapeutic approaches. |
| RNA | Ribonucleic acid (RNA) is a single-stranded copy of the DNA sequence that plays a messenger role in helping cells carry out instructions for making a protein. RNA consists of four nucleotides or bases (A, U, G, and C). The DNA T is replaced by the RNA U when copied. |
| SNP | A single-nucleotide polymorphism (SNP, pronounced “snip”) is a DNA sequence variation that occurs when a single nucleotide (A, T, C, or G) in a gene sequence is altered. SNPs are the most abundant variant in the human genome and are the most common source of genetic variation, with more than 10 million SNPs present in the human genome. They can also serve as biomarkers. |
| Somatic | Somatic cells include stem cells, blood cells, and other cell types. Changes to somatic cells are not permanent, meaning they cannot be passed down by generation. Somatic cell mutations include acquired alterations that can result from chemical or radiation exposure. Changes may also occur as cells are copied during growth or repair processes. |
Despite being a relatively new field, genomic medicine has impacted diagnostics and treatment in a significant manner.
It’s also been serving as a decision-making tool for many healthcare professionals.
But it’s important to know that despite the abundance of information our genome can provide us, our ability to understand it is still developing.
The more and more we learn about it, the more impact it will have on healthcare.
Genome sequencing is currently employed in a few healthcare fields, like cancer stratification, precision medicine, diagnosis and characterization of genetic diseases, and drug development.
In recent years, scientists worldwide have been trying to identify genetic changes associated with several types of cancer to determine their role in tumor development and metastasis.
There has also been an ongoing attempt to use these findings to fight cancer.
Genomic medicine can help understand three important aspects of cancer.
Precision medicine is cancer, most often means looking at how changes in certain genes in a person's cancer cells might affect their care, such as diagnosis, treatment, and other management options.
It has allowed clinicians to classify tumors based on mutations and responses to drug therapies.
This allows drug development that can fight cancer in more than one way.
Such targeted therapies also help overcome the severe side effects of chemotherapy to an extent.
Since the treatment can be designed to target certain characteristics present only in cancer cells and not normal cells, they are less toxic to the patients.
The following are some examples of drugs developed using precision medicine:
Using genomic information to analyze how a person’s genes affect their response to medication is called pharmacogenomics.
Before the advent of pharmacogenomics, drug development followed the “one-size-fits-all” approach.
Genomic medicine has now challenged this idea by bringing into light the different ways a person’s genetic makeup can affect drug responses.
Pharmacogenomics allows your doctor to identify the drugs that’ll likely work for you and the optimal dosage.
This applies to various classes of drugs, including antidepressants, opioid pain relievers, heart medications, anti-inflammatories, anti-diabetics, and medications used before and after surgery.
In some types of breast cancer, there are too many HER2 receptors.
Trastuzumab can treat only these types since it works by attaching to the HER2 receptors on cancer cells and killing them.
Abacavir is an effective treatment for AIDS since it fights against HIV.
Research suggests that about 5-8% of the people undergoing this treatment experience a hypersensitivity reaction, which manifests as rash, fatigue, and diarrhea.
This is due to an exaggerated response to the drug by the immune system.
Studies that explored the association between genes that regulate the immune system and abacavir hypersensitivity have discovered that a type of HLA gene called HLA-B*5701 increases the risk of hypersensitive reactions.
Those carrying this gene may benefit better from alternative drugs.
Statins are a class of drugs that lower blood cholesterol levels.
Certain transporter proteins made by the SLCO1B1 gene carry statins to the liver, where they function to remove excess cholesterol.
People with a certain genetic change in the SLCO1B1 (*5) may experience muscle problems like weakness and pain since this change results in lower levels of simvastatin taken to the liver.
Higher levels of statin in the muscles can cause statin-induced myopathy
Observational and patient registry studies report a 7% to 29% incidence of statin-associated muscle symptoms (SAMS).
The risk of SAMS in people carrying the *5 type of SCLO1B1 gene is the highest with simvastatin and the least with pravastatin or rosuvastatin.
Thus, pharmacogenetic testing for this gene allows tailoring statin therapy based on genetics.
Warfarin is a blood-thinning drug (anticoagulant) used to prevent heart attacks and strokes.
It works by interfering with the activity of an enzyme involved in blood clotting called the vitamin K epoxide reductase.
A gene called VKORC1 strongly influences warfarin dosing.
It produces vitamin K epoxide reductase, which is the target for warfarin.
People with a certain type of the VKORC1 gene have an increased sensitivity to warfarin and require a lower starting dose.
Certain enzymes in the CYP group, like CYP2C9, CYP3A4, and CYP1A2, play a role in warfarin pharmacogenomics.
Scientists are discovering that millions of people are living with an increased risk for certain serious health conditions without signs or symptoms due to small changes in their DNA.
Thanks to genomic medicine, it is possible not just to identify these variants but also to predict their effect to prevent these conditions years before symptoms appear.
Many common conditions are typically not caused by just a single mutation.
The risk is due to millions of inherited variants called SNPs, each of which contributes only a little to the disease risk.
But when we add the effect of these small changes, it can greatly impact an individual’s health profile.
Polygenic risk scores (PRS) are promising tools for predicting disease risk.
PRS calculates the sum of the effects of different variants to come up with a score that indicates a person’s risk for a particular health condition.
This information can allow physicians to devise effective preventive strategies and closely monitor high-risk individuals for early diagnosis.
Gene Health Report: Identify your risk for 47 chronic diseases for just $50
It is safe to say that genomics is changing how doctors practice medicine and treat diseases.
According to a new white paper by BIS Research titled The Five Forces of Genomic Medicine, “genomic medicine has the potential to save lives, transform medical practice around the world, and drive billions of dollars of economic activity.”
The National Human Genome Research Institute (NHGRI) developed strategic engagement to identify future research priorities and opportunities in human genomics, emphasizing health applications in 2020.
Here is a summary of 10 bold and fantastical predictions made by experts at the NHGRI for the next decade.
| 10 Predictions About The Future Of Genomics By The NHGRI |
| Whole genome sequencing and analysis will become a normal routine in any research lab. |
| The function of every gene in human DNA will be discovered and understood. |
| The effects of the environment on gene function will be routinely taken into account to predict disease risk and health outcomes. |
| Studies will abandon race and other social constructs as biological categories in genomic research. |
| Students will regularly display projects regarding genome sequence studies as a part of their school science fairs. |
| Genetic testing will soon become a commonly used medical tool like blood tests. |
| Geneticists will readily be able to tell whether a variant is clinically relevant. |
| Each individual’s whole genome sequence will be accessible via smartphones in a user-friendly format. |
| Genomic advances will benefit not just certain people or communities but society as a whole. |
| Discoveries and new technologies in genomics will help cure many more genetic diseases. |
Pharmacogenomics in Psychiatry: Genetic testing can help identify individuals who may have a poor response or heightened risk of adverse reactions to certain psychiatric medications, such as antidepressants and antipsychotics. This information can guide clinicians in selecting the most effective medication and dose for each patient, improving treatment outcomes, and minimizing side effects.
Digital Health Technologies: Integrating genomic information with digital health technologies opens new avenues for personalized healthcare. Genomic data can be combined with wearable devices, smartphone apps, and telemedicine platforms to provide real-time monitoring, proactive health management, and personalized interventions. For example, genetic information can be used to create personalized exercise and nutrition plans tailored to an individual's genetic attributes and health goals.
Microbiome-based Therapies: The human microbiome, comprising trillions of microbes living in and on our bodies, significantly influences our health and disease susceptibility. Researchers are exploring the potential of microbiome-based therapies to treat various conditions, including gastrointestinal disorders, metabolic disorders, and even mental health disorders. By understanding the interplay between an individual's genetic makeup and their unique microbiome composition, personalized microbiome interventions can be developed to restore a healthy microbial balance and promote overall well-being.
The average lifespan of the human population is increasing.
According to the World Health Organization, life expectancy has increased globally by more than 6 years between 2000 and 2019 – from 66.8 years in 2000 to 73.4 years in 2019.
In this landscape, genomic medicine will transform healthcare to increase this number further.
Having genomic information at hand means having information about your health and well-being and the ability to make informed choices.
On the personal economy side, the resulting longer health span can increase a person’s earning capacity.
Further, with improved disease risk identification tools, individuals reduce their health costs through early detection and avoiding unnecessary treatments.
Genomic information can also help impact the national economy by cutting productivity loss and disease treatment costs.
With the continually declining costs of whole genome sequencing and swift results, the number of people who opt to get this done is on the up and above.
While opting for genome sequencing is a very personal choice, it could be worthwhile to be aware of its concerns.
The bottom line, genomic medicine can transform medicine and healthcare.
The medical and scientific communities worldwide are just beginning to seize the transformative opportunities.
We have just scratched the surface of genomic medicine, and a mountain of information is waiting to be discovered.
