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
Gout is often thought to be the “disease of kings” due to its association with gluttony and alcohol consumption. This stigma has prevented us from exploring its root cause for many years. Research in the last decade suggests the cause of gout is a lot more genetics than just diet. Gout can affect anyone, but if you have an affected first-degree family member, your risk increases by 2.5x! This begs the answer to the question, “Is gout hereditary?” While we attempt to discuss this, we’ll also touch upon how to learn your risk for gout via a genetic test.
Did You Know?
Many chronic conditions like diabetes, hypertension, or gout are influenced by many gene changes. Each change adds to the risk of developing the condition. You can learn your risk for these conditions as well as recommendations to lower your risk using your existing ancestry test DNA data.
Learn How.
Gout is one type of arthritis that results in inflammation, tenderness, and redness of one or more joints (ankles, wrists, fingers, and knees), most frequently the big toe joint.
People with gout have high levels of a chemical compound called urate or uric acid in their blood (hyperuricemia).
Uric acid is formed when purines break down, which are found naturally in the body.
Purines are substances obtained from certain seafood and meat.
Alcoholic beverages and sweetened drinks also increase uric acid in the blood.
Generally, uric acid dissolves in the blood and is excreted by the kidneys through the urine.
But sometimes, the body produces excess uric acid, or the kidneys excrete too little uric acid.
During this stage, uric acid builds up, and forms sharp, needle-like structures called urate crystals that accumulate in joints, and the immune system reacts by causing inflammation.
Gout can be classified into two types based on the source of accumulation of uric acid:
Primary gout is due to overproduction or under-excretion of uric acid.
It is because of factors like dietary excess, excessive alcohol consumption, and metabolic syndrome.
Secondary gout is due to medications that induce hyperuricemia while treating myeloproliferative diseases.
Secondary gout is mostly a result of the comorbidity of such diseases.
Gout sufferers frequently experience sudden, excruciating pain attacks that start at night and last for up to 12 hours.
This extreme discomfort, which usually begins at night, is a significant symptom of gout.
Most people only have pain in one particular joint. Your big toe is commonly where it starts, although it can happen anywhere.
Other gout symptoms include:
With a strong genetic influence, gout is a condition that can be inherited. The heritability of gout is 65%!
Although there’s no clear inheritance pattern, studies suggest that having a close affected family member can increase your risk significantly.
An estimated 20% of gout sufferers have a relative with the condition.
To explore the heritability of gout, a group of researchers analyzed 4.2 million families.
Study Observations
A meta-analysis published in 2018 suggests that the impact of genes on gout was much more significant than that of diet.
The study was done on 16,760 individuals with European ancestry.
They were exposed to several food items, some of which increased serum urate levels and others that it.
The researchers observed that diet only contributed to ≤0.3% of the variance in urate levels; by contrast, genetics contributed to a whopping 23.9% of the variance!
Genes that produce proteins that are responsible for urate transport play a prominent role in gout.
Urate transporters mediate urate excretion.
A variation in one of these urate-related genes may cause gout.
The genes that have so far been identified to have the strongest association with gout include
The SLC2A9 gene produces a protein called GLUT-9 found in the kidneys.
This protein regulates the reabsorption of urate from the urine back into the blood.
It also assists in the removal of urate through urine.
A mutation in the SLC2A9 gene may result in increased urate reabsorption or decreased urate excretion.
This could lead to hyperuricemia and, eventually, gout.
The ABCG2 gene produces a multifunctional transporter protein called ABCG2, primarily in the stomach and liver.
The protein regulates the excretion of urate via stools (or poop).
If the ABCG2 gene is altered, the protein won’t be able to release urate into the intestines as it should.
As a result, urate excretion may decrease, increasing serum urate levels and leading to gout.
Now that we have seen that family history and genes play a vital role in gout risk let’s explore some of the other factors that can contribute to the risk.
At present, no genetic test can confirm with 100% accuracy whether or not you’ll get gout. But, it can really be helpful in understanding your risk for the condition.
These tests analyze commonly-associated genes with gout to identify the presence of genetic variants, if any.
If you possess a genetic variant, you may be at risk for gout.
You can then discuss the results with your doctor, who after considering your medical, family, and personal history, can recommend steps to lower your risk and prevent gout.
Researchers have identified several genes associated with gout.
Xcode Life’s Gene Health report which analyzes your genetic risk for over 45+ health conditions, can help you understand your gout risk.
You can identify your genetic risk of gout by using your 23andMe (or any ancestry test) DNA data and placing an order for the Gene Health Report.
A Sample Gout DNA Report
The MTHFR gene is key to a process called methylation, which pretty much runs the entire show in our human body, regulating innumerable critical functions. The importance of a well-functioning methylation cycle, thus, cannot be overstated. But when there are unfavorable changes in the MTHFR gene, methylation could be affected, increasing your risk for numerous health conditions. A genetic methylation test is a simple way to identify whether or not you carry the MTHFR gene changes. Well, what if you do? The fix is as simple as it gets. Read on to learn more about MTHFR and methylation, how to get a genetic methylation test, and ways to combat MTHFR mutations.
Did You Know?
The DNA data from your genetic ancestry test can be used to identify if you have MTHFR gene mutations. You can discuss these results with your doctor, who can recommend the correct course of action for you. Download your DNA data and upload it to Xcode Life to learn about MTHFR and 1,500+ things about your health. Learn more.
Methylation is a critical biochemical process within the human body, governing myriad functions from DNA production to brain chemical synthesis.
This intricate process is vital in regulating key bodily systems, including cardiovascular, neurological, reproductive, and detoxification pathways.
At its core, methylation is about turning biological gears and switches on and off, enabling the body to function optimally.
Central to this process is the MTHFR gene, which encodes for the enzyme methylenetetrahydrofolate reductase.
This enzyme is instrumental in processing amino acids, the fundamental building blocks of proteins. MTHFR’s significance is particularly pronounced in a chemical reaction involving different forms of vitamin B9 (folate).
This reaction is a crucial step in the methylation process.
The MTHFR enzyme also aids in converting homocysteine into methionine, an essential compound needed by the body for protein synthesis and the formation of other critical substances.
In the study of genetics, a variant refers to any deviation in the DNA sequence from what is typically expected.
Focusing on the MTHFR gene, each individual carries two copies of this gene, inheriting one from each parent.
Notably, there are two common types of MTHFR mutations or variants: C677T and A1298C.
These genetic mutations are surprisingly prevalent. For instance, approximately 25% of people of Hispanic descent and between 10–15% of people of Caucasian descent in the United States have two copies of the C677T mutation.
These mutations are particularly important because they can lead to elevated levels of homocysteine in the blood.
Homocysteine is an amino acid that, at high levels, may be associated with a range of health issues, including birth anomalies, glaucoma, certain mental health conditions, and some types of cancer.
Understanding the possible genotypes for these MTHFR variants is crucial in determining an individual’s genetic predisposition to these health issues.
The C677T Variant
The A1298C Variant
When the MTHFR gene is mutated, the function of the MTHFR enzyme may be reduced.
For instance, the C677T mutation is known to decrease the activity of the MTHFR enzyme, which can lead to an increase in homocysteine levels in the blood and reduced production of methionine, an amino acid involved in methylation.
This can result in hyperhomocysteinemia, which has been associated with various health issues, including cardiovascular diseases.
The Xcode Life Methylation Genetic Test is a DNA analysis that focuses on genes associated with the methylation pathway.
This test utilizes raw data obtained from popular ancestry genetic testing service providers like 23andMe, Ancestry DNA, Family Tree DNA (FTDNA), Living DNA, and My Heritage.
The test analyzes more than 15 genes associated with the methylation pathway.
One of the key genes analyzed is the MTHFR gene, which plays a crucial role in the methylation pathway.
The MTHFR Report refers to the results of a genetic test that detects mutations in the MTHFR gene.
The test specifically detects two common mutations in the MTHFR gene:
The MTHFR Report will indicate whether these mutations were detected in the individual’s genetic data.
In addition to the detection of mutations, the report may also provide an interpretation of the results.
The report also has a section titled “Other MTHFR SNPs,” which profiles your genotypes for variations in the other methylation genes, which are associated, in varying degrees, with MTHFR enzyme activity.
For a sample MTHFR report/ preview of the report, click here.
Katy Says
I’m so glad I confirmed once and for all about my MTHFR status. The genetic testing my practitoner offered was extortionate. After completing my AncestryDNA I was able to upload my raw data file with Xcode Life at a very reasonable price and receive a report that was very easy to understand. I now have a concrete plan on how to go about lowering my homocysteine and checking it’s status every year… Read More.
In Xcode Life’s MTHFR report, the initial section will specify which, if any, of the 2 prominent variants of the MTHFR gene you have.
Depending on the results, the MTHFR enzyme activity will be provided as a bar diagram.
If the pointer is in orange or red, please discuss the results with your doctor so that they can correlate them with family history and clinical symptoms to recommend suitable supplementation, if you require any.
The next section of the report includes information on variants in other genes that partially influence MTHFR enzyme activity.
The presence of a large number of homozygous (2 risk variants- red color) of high-ranking SNPs may be associated with lower enzymatic activity.
Improving methylation, a crucial biological process, can significantly impact overall health. Here are five natural ways to enhance methylation:
Bonus Tips
Additional strategies include increasing the intake of coenzyme Q10, phosphatidylcholine, folinic or l-methylfolate, and vitamins B6 and B12, which are integral to the methylation process.
Maintaining gut health, improving stomach acid, and supplementing with antioxidants, magnesium, and zinc can also support proper homocysteine metabolism.
Remember, while these natural approaches can improve methylation, it’s crucial to consult with a healthcare provider for personalized advice, especially regarding supplementation and diet modifications.
Methylation is a vital biochemical process in our bodies, influenced significantly by the MTHFR gene and its two important variants, C677T and A1298C.
These common genetic mutations, found in a significant portion of the population, can lead to elevated homocysteine levels and associated health risks.
The Xcode Life Methylation Genetic Test offers an in-depth analysis of these variants using data from popular ancestry testing services. It provides a comprehensive MTHFR report, helping individuals understand their genetic predisposition to methylation-related issues.
To support optimal methylation, adopting a nutrient-dense diet, supplementing appropriately, regular exercise, adequate sleep, limiting exposure to harmful substances, and reducing toxin exposure are key strategies.
Additionally, incorporating specific nutrients and supplements like coenzyme Q10, phosphatidylcholine, folinic acid, and vitamins B6 and B12 can further enhance methylation processes.
It’s important to consult with healthcare professionals for personalized guidance and to ensure these natural methods align with your individual health needs.
https://www.nature.com/articles/npp2012112
https://www.medicalnewstoday.com/articles/326181
https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html
Have you ever wondered what secrets your DNA could reveal about your ancient forebears or the paths they traversed? Haplogroups are like signposts from the past, markers in our DNA that trace back through generations to reveal where we come from. They are like branches on the family tree of humanity, tracing our lineage back to common ancestors. By understanding haplogroups, you’re not just exploring your personal history; you’re also tapping into the migratory tales of our species and even discovering how certain genetic traits may affect health.
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.
According to the International Society of Genetic Genealogy, a haplogroup is a group of people who share a common ancestor on either their patriline or matriline.
Haplogroups follow male and female ancestry lines.
The Y DNA is passed down from father to son, while the mtDNA or mitochondrial DNA is passed from the mother to both the son and the daughter.
Each time a DNA mutated, a group split off and formed their haplogroup.
Your haplogroup can tell you a lot about your ancestry.
Haplogroups are associated with particular geographical regions.
They can tell us about our ancestor’s migration routes out of Africa.
Haplogroups can also identify links to a group of people with the same ancestor.
All modern Europeans are classified into seven groups called mitochondrial haplogroups.
A set of mutations in the mitochondrial genome defines each haplogroup.
It can be traced to a specific prehistoric woman along a person’s maternal line.
In his book The Seven Daughters of Eve, Bryan Sykes refers to these women as “clan mothers.”
The clan mothers correspond to one or more human mitochondrial haplogroups:
The Most Common Haplogroup
MtDNA H is a haplogroup found in 40% of the European population, making it the most common haplogroup in the West.
It is common in North Africa, the Middle East, Central Asia, and Northern Asia.
L1, L2 and L3 are Africa’s most common mtDNA haplogroups.
R1 is the most common in Europe for Y DNA haplogroups, while C and A are most prevalent in Africa.
Haplogroups can identify the genetic lineage of a person.
It can also identify the early migration routes of human beings.
Sometimes, there are specific diseases found in certain populations.
These diseases can be traced back to a mutation in the Y chromosome or the mitochondrial DNA.
Testing for such mutations during haplogroup studies can help us treat these disorders better.
Dawn Says
I have been struggling for years searching for answers for health issues I have been having. Sending in my DNA to getting the results took less then 24hours. So simple, most importantly I may now have the answers I have been seeking all this time. Will definitely keep spreading the word. There is way to many people that could truly benefit from this. Read More Reviews.
The oldest haplogroups are from Africa.
According to paleontological records, Homo sapiens started migrating from Africa 60,000-70,000 years ago.
They moved to the Eurasian continent from Africa.
Some migrants reached the Indian coast through Southeast Asia.
They then moved to Australia around 50,000 years ago.
Since then, humans have followed different migratory routes and spread worldwide.
We can better understand and trace these migratory routes by defining the mutation in Y DNA and mtDNA.
Variations in the mitochondrial DNA or mtDNA determine maternal haplogroups.
You inherit your mitochondria from your mother.
Mitochondrial DNA does not recombine with other DNA since it is the only type of DNA found outside the nucleus.
Mitochondrial DNA remains mostly unchanged since it does not undergo recombination.
It means you will share the same haplogroup with your maternal relatives, such as your sister, maternal aunt, or maternal grandmother.
The maternal haplogroup traces back through the generations at a specific mutation at a particular time.
MtDNA is well conserved because it rarely undergoes recombination.
It has an intrinsic ability to resist degradation.
Also, mtDNA has a higher copy number than nuclear DNA.
Each cell contains 1000 mitochondria, with 2-10 copies of DNA per mitochondrion.
Thus, the amount of mtDNA available from a sample is quite large.
The variations in the Y chromosome determine the paternal haplogroup.
The Y chromosome is a sex-determining chromosome found only in males.
Men inherit this chromosome from their fathers.
The Y chromosome is a reflection of your ancient paternal ancestry.
The Y chromosome undergoes recombination with the X chromosome.
However, the recombination occurs only at the ends.
Thus, 95% of the Y chromosome remains mostly intact across generations and is well conserved.
Autosomal DNA undergoes mutations in each successive generation.
A large portion of your DNA is found within the autosomal DNA.
Analyzing your autosomal DNA will reveal your recent ancestry from the past five to ten generations.
On the other hand, haplogroups reflect ancient ancestral history.
Two people can share the same haplogroup but not share any recent ancestry.
Thus, testing for your haplogroup might show different results than assessing your autosomal DNA.
Both of them are correct.
The Y chromosome or the mitochondrial DNA can undergo small mutations.
These mutations are tested to identify haplogroups in a person.
Identifying the haplogroup will help determine your ancestral relatives on your father or mother’s side.
A Short Tandem Repeat (STR) analysis can determine a person’s haplogroup.
However, only a Y SNP test can confirm a person’s haplogroup.
SNP or Single Nucleotide Polymorphism is a slight mutation occurring on a single DNA nucleotide.
These mutations occurred thousands of years ago and are passed down through generations.
Testing for SNPs in the Y chromosome can help us identify a person’s haplogroup.
Since women don’t have the Y chromosome, they can test their mtDNA to identify their haplogroup.
A male relative on her mother’s side can be tested if a woman wants to identify her Y DNA haplogroup.
Not all people who share a haplogroup are genetic relatives.
It tells you about your direct paternal or maternal line ancestors.
Most of your genetic relatives will fall outside your haplogroup.
DNA mutations that define a haplogroup occur thousands of years ago.
Thus, most people who share the same haplogroup are not closely related.
Upload Your DNA data for 1000+ health & wellness insights
Haplogroups can reveal a lot about your ancestral history.
It can reveal the migration routes of your ancestors.
But more importantly, they are now associated with many common diseases, like Parkinson’s or Alzheimer’s disease.
Thus, knowing your haplogroup can help you understand whether you are predisposed to develop these diseases and take adequate precautions.
Haplogroups are a group of people that share a common ancestor on their paternal or maternal side.
Specifically, they share the same Y DNA or mtDNA.
The Y and mtDNA undergo minimal mutation when passed down through the generations.
They are largely conserved and remain unchanged for generations.
Identifying haplogroups can help us understand the early migration routes of humans out of Africa.
Haplogroups can also help us understand certain diseases found only within specific populations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793196/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC379119/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562384/
https://www.sciencedirect.com/science/article/abs/pii/B9781455707379000321
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.
