Monthly Archives: July 2021

Genetics

Genetic Testing Gaining Popularity In Healthcare: All You Need To Know About It – TheHealthSite

If the term 'genetic testing' is something new to you, you're not alone. Not many people in India are aware of this advanced technology that can help determine a person's susceptibility to various diseases, as well as prevent or delay their onset with personalised healthcare. Because genetic testing had been largely used only for the specific diagnosis/detection purpose and neonatal healthcare in India, people were unaware of the vast benefits of genetic testing. Over the last few years, however, personalized genetic testing has gained popularity for the prevention of diseases like cancer, tuberculosis, etc. The increasing awareness among the population regarding early diagnosis coupled with rising expenditure on preventive measures has further fuelled the demand for genetic testing in the market, specifically in the areas of personalized healthcare and screening for predisposition of various diseases.

Let's learn more about genetic testing, including its uses, benefits, and demand in India, from Amol Naikawadi, Joint Managing Director, Indus Health Plus Pvt Ltd.

Indus Health Plus launched its Genetic Testing Services in India in December 2018. Since its launch, the company said, it has observed that the demand for such packages is not only in metros, but tier II and III cities are also equally responding positively to this trend.

Below are excerpts from an exclusive email interaction with Naikawadi -

The entire structure and functioning of the body are dependent on our genes. For example, genes, a short section of DNA, contain instructions that instruct cells to make molecules called proteins. Different proteins carry out most of the functions inside human body. For example, various hormones, enzymes, antibodies, etc. all are proteins whose synthesis instructions are encoded in the genes.

Genes also carry information that determines our hair colour, height, eye colour, etc. With genes playing such an important role in the overall crux of our being, they also can help prevent diseases. How - we might ask? The answer is through genetic testing.

A technologically advanced prevention tool that can personalise an individual's health, thereby reducing the costs associated with non-communicable diseases (NCDs). It identifies the changes in one's genes, proteins, chromosomes, thus determining a person's susceptibility to genetic disorders.

There are different types of genetic tests available for various concerns. Such as:

These tests help us understand the genetic variations related to our health traits, the kind of food we're sensitive to, our body's metabolism rate, the medicine we should be consuming, etc. We can also receive information on the hereditary health risks, fitness and skincare routine we should ideally follow.

In pregnant women between the 10th and 12th week of pregnancy, genetic testing ensures if the foetus is developing well and is healthy. Newborn screening shows whether the toddler has any metabolic or congenital abnormality. Generally, the procedure and results are better understood under a geneticist's guidance.

The two predominant kinds of the test are clinical genetic testing and personal genomics testing.

Clinical Genetic Testing It is the laboratory analysis of the DNA or RNA to pre-empt the possibility of any disease. The purpose of this test is to anticipate an illness before the symptoms even arise and get a definite diagnosis. An individual who has symptoms of a genetic disorder might undergo a diagnostic test for precise detection.

Personal Genomic Testing - This kind plays a vital role in the field of personalised and preventive healthcare. It can help anticipate an individual's susceptibility to a disease, the kind of drugs and the type of treatment, best suited to their health.

Thus, the test allows one to receive an analysis of their DNA:

With work and academic pressure piling over, many don't bother keeping their health a top priority. People spend hours sitting in front of their laptops working or binge-watching, thus leading a sedentary life. Multiple NCDs arise due to unhealthy eating, no exercise, substance (drugs, tobacco, and alcohol) abuse, etc. Thus, causing heart disorders, fatty liver, diabetes and many other health conditions. Exposure to environmental toxins, air pollution, have also increased incidence of asthma, cancer and other health conditions.

However, in most lifestyle diseases, we can avoid the risks by modifying our diet, adding a suitable fitness regime, taking necessary precautions, etc. NCDs cause severe trauma and out-of-pocket expenses for the family. An increased level of awareness and education about early detection and prevention can reduce them.

A personalised genetic test identifies biological markers present in an individual that may be associated with an increased risk for specific diseases, thus, reducing the likelihood of NCDs. It also allows doctors to treat the patient more effectively, and in most cases, the individual can live a long and healthy life.

In India, the majority don't have an idea about genetic testing. People mostly know the term famously in the context of DNA tests with relevance to paternity testing and forensic investigation.

Masses do not know the relevance of genetic testing in terms of health and fitness. Even the elite class, the educated section including clinicians, are not entirely aware of the potential benefits of genetic testing.

When an individual move to the interiors, people from rural areas have little to no information on genetic testing. And the reasons are evidently because of a lack of access to quality healthcare and limited diagnostic centres or hospitals there. The concept of genetic testing is a foreign entity in these areas.

Lack of awareness and acceptance both are bottlenecks in the implementation of genetic testing in routine healthcare. A few reasons for the absence of mass popularity of genetic testing are:

Certain genetic variants determine one's response to a specific type of exercise and how it affects their body. For example, people who have a specific variant in the Fat mass and obesity (FTO) gene that increases body weight are more likely to benefit from physical exercise. At the same time, some are genetically wired to feel fatigued and are best suited for light workouts.

Genetic variations also affect a person's food taste, likes and dislikes, food intolerances, etc. An excellent example of genetic controlled tasting ability is the presence of phenylthiocarbamide (PTC) in food like cauliflower, Brussel sprouts, wine, pepper, kale, etc. Based on one's genes, they can either find the element very bitter or tasteless. The single gene TAS2R38 is responsible for an individual's ability to taste PTC.

Gene variations are also partially responsible for metabolism rate, absorption of food, catabolism, storage, biosynthesis, and excretion.

Our genes determine whether we're allergic to gluten or are lactose intolerant. Overall, a genetic test gives a detailed understanding of the patient's genetic make-up, thus helping a nutritionist form a personalised diet plan.

Nutrigenetics: It is the study of how genes determine the effects nutrients have on the body and health. Response of the body to the food we eat is based on our nutrigenetic profile. This is because specific genes are associated with nutrient absorption and utilization, food intolerances and sensitivities, and nutritional requirements and deficiencies.

Sports Genomics Concept: It is a relatively new branch of genetics in the discipline. Sports genomics is the study of the genetic make-up or architecture that contribute to an athlete's performance. The same principle is applicable to every individual who plan to personalize their fitness routine as genes influences our response to many exercise-related traits.

As mentioned previously, genetic tests help us smartly eradicate guesswork and approach fitness in the best way. The reports make us conscious about our endurance to a workout plan. Based on this, experts might recommend either a high-intensity or a more extended training session.

India is slowly starting to look at genetic testing as an essential preventive healthcare tool. Many more diagnostic centres have begun entering this domain. Healthcare is evolving every day, and genetic testing will go a long way in revolutionising it.

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Genetics

DNA Hoarders: Genetic Duplication Linked to the Origin and Evolution of Pine Trees and Their Relatives – SciTechDaily

New research shows genome duplication in the ancestor of modern gymnosperms, a group of seed plants that includes cypresses and pines, might have directly contributed to the origin of the group over 350 million years ago. Credit: Kristen Grace/Florida Museum of Natural History

Plants are DNA hoarders. Adhering to the maxim of never throwing anything out that might be useful later, they often duplicate their entire genome and hang on to the added genetic baggage. All those extra genes are then free to mutate and produce new physical traits, hastening the tempo of evolution.

A new study shows that such duplication events have been vitally important throughout the evolutionary history of gymnosperms, a diverse group of seed plants that includes pines, cypresses, sequoias, ginkgos, and cycads. Published on July 19, 2021, in Nature Plants, the research indicates that a genome duplication in the ancestor of modern gymnosperms might have directly contributed to the origin of the group over 350 million years ago. Subsequent duplications provided raw material for the evolution of innovative traits that enabled these plants to persist in dramatically changing ecosystems, laying the foundation for a recent resurgence over the last 20 million years.

This event at the start of their evolution created an opportunity for genes to evolve and create totally new functions that potentially helped gymnosperms transition to new habitats and aided in their ecological ascendance, said Gregory Stull, a recent doctoral graduate of the Florida Museum of Natural History and lead author of the study.

Some conifer and cycad species have highly restricted distributions and are at risk of going extinct due to climate change and habitat loss. These conifers, Araucaria goroensis, also known as the monkey puzzle tree, and Dacrydium araucarioides are unique to New Caledonia. Credit: Nicolas Anger

While having more than two sets of chromosomes a phenomenon called polyploidy is rare in animals, in plants it is commonplace. Most of the fruits and vegetables we eat, for example, are polyploids, often involving hybridization between two closely related species. Many plants, including wheat, peanuts, coffee, oats, and strawberries, benefit from having multiple divergent copies of DNA, which can lead to faster growth rates and an increase in size and weight.

Until now, however, its been unclear how polyploidy may have influenced the evolution of gymnosperms. Although they have some of the largest genomes in the plant kingdom, they have low chromosome numbers, which for decades prompted scientists to assume that polyploidy wasnt as prevalent or important in these plants.

Gymnosperm genetics are also complex. Their large genomes make them challenging to study, and much of their DNA consists of repeating sequences that dont code for anything.

Some gymnosperm traits, such as cone structure, color, shape and size, may have arisen as a result of multiple genome duplications. This is a female cone of the species Callitris pancheri. Credit: Nicolas Anger

What makes gymnosperm genomes complex is they seem to have a proclivity for accumulating lots of repetitive elements, said study co-author Douglas Soltis, Florida Museum curator and University of Florida distinguished professor. Things like ginkgos, cycads, pines and other conifers are loaded with all this repetitive stuff that has nothing to do with genome duplication.

However, a recent collaborative effort among plant biologists, including Soltis, to obtain massive numbers of genetic sequences from more than 1,000 plants has opened new doors for scientists attempting to piece together the long history of land plant evolution. Stull, now a postdoctoral researcher at the Chinese Academy of Sciences Kunming Institute of Botany, and his colleagues used a combination of these data and newly generated sequences to give gymnosperms another look.

By comparing the DNA of living gymnosperms, the researchers were able to peer back in time, uncovering evidence for multiple ancient genome duplication events that coincided with the origin of major groups.

Gymnosperms have undergone significant extinctions throughout their long history, making it difficult to decipher the exact nature of their relationships. But the genomes of all living gymnosperms share the signature of an ancient duplication in the distant past, more than 350 million years ago. More than 100 million years later, another duplication gave rise to the pine family, while a third led to the origin of podocarps, a group containing mostly trees and shrubs that today are primarily restricted to the Southern Hemisphere.

In each case, analyses revealed a strong link between duplicated DNA and the evolution of unique traits. While future studies are needed to determine exactly which traits arose due to polyploidy, possible candidates include the strange egglike roots of cycads that harbor nitrogen-fixing bacteria and the diverse cone structures found across modern conifers. Podocarp cones, for example, are highly modified and look deceptively like fruit, said Stull: Their cones are very fleshy, have various colors, and are dispersed by different animals.

Stull and his colleagues also wanted to know whether genome duplications influenced the rate at which new gymnosperm species evolved through time. But instead of a clear-cut pattern, they found a complex interplay of extinction and diversification amidst a backdrop of a significantly changing global climates.

Today, there are about 1,000 gymnosperm species, which may not seem like many when compared with the 300,000 or so species of flowering plants. But in their heyday, gymnosperms were much more diverse.

Gymnosperms were still thriving prior to the asteroid extinction event 66 million years ago, best known for the demise of dinosaurs. But the dramatic ecological changes brought about by the impact tipped the scales: After the dinosaurs disappeared, flowering plants quickly began outcompeting gymnosperm lineages, which suffered major bouts of extinction as a result. Some groups were snuffed out entirely, while others barely managed to survive to the present. The once-flourishing ginkgo family, for example, is today represented by a single living species.

But the results from this study indicate that at least some gymnosperm groups made a comeback starting around 20 million years ago, coinciding with Earths transition to a cooler, drier climate.

We see points in history where gymnosperms didnt just continue to decline, but they actually diversified in species numbers as well, which makes for a more dynamic picture of their evolutionary history, said co-author Pamela Soltis, Florida Museum curator and UF distinguished professor.

While some gymnosperms failed to cope with the dual specter of climate change and competition, others had an advantage in certain habitats due to the very traits that caused them to lose out in their ancient rivalry with flowering plants. Groups such as pines, spruces, firs and junipers got fresh starts.

In some respects, gymnosperms maybe arent that flexible, Pamela Soltis said. They kind of have to wait around until climate is more favorable in order for them to diversify.

In some environments, gymnosperms adapted to live at the extremes. In pine forests of southeastern North America, longleaf pines are adapted to frequent fires that incinerate their competition, and conifers dominate the boreal forests of the far north. But take away the fire or the cold, and flowering plants quickly start to encroach.

While gymnosperms are still in the process of diversifying, theyve been interrupted by human-made changes to the environment. Currently, more than 40% of gymnosperms are threatened by extinction due to the cumulative pressures of climate change and habitat loss. Future studies clarifying how their underlying genetics enabled them to persist to the present may give scientists a better framework for ensuring they survive well into the future.

Even though some conifer and cycad groups have diversified considerably over the past 20 million years, many species have highly restricted distributions and are at risk of extinction, Stull said. Efforts to reduce habitat loss are likely essential for conserving the many species currently threatened by extinction.

The researchers published their findings in Nature Plants.

Reference: Gene duplications and phylogenomic conflict underlie major pulses of phenotypic evolution in gymnosperms by Gregory W. Stull, Xiao-Jian Qu, Caroline Parins-Fukuchi, Ying-Ying Yang, Jun-Bo Yang, Zhi-Yun Yang, Yi Hu, Hong Ma, Pamela S. Soltis, Douglas E. Soltis, De-Zhu Li, Stephen A. Smith and Ting-Shuang Yi, 19 July 2021, Nature Plants.DOI: 10.1038/s41477-021-00964-4

Other co-authors of the study are Xiao-Jian Qu of Shandong Normal University; Caroline Parins-Fukuchi of the University of Chicago; Ying-Ying Yang, Jun-Bo Yang, Zhi-Yun Yang, De-Zhu Li and Ting-Shuang Yi of the Chinese Academy of Sciences; Yi Hu and Hong Ma of Pennsylvania State University; and Stephen Smith of the University of Michigan.

Funding for the research was provided by the Chinese Academy of Sciences, the National Natural Science Foundation of China, the Yunling International High-end Experts Program of Yunnan Province and the Natural Science Foundation of Shandong Province. Stull also received support from the CAS Presidents International Fellowship Initiative and the China Postdoctoral Science Foundations International Postdoctoral Exchange Program.

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DNA Hoarders: Genetic Duplication Linked to the Origin and Evolution of Pine Trees and Their Relatives - SciTechDaily

Genetics

Cornell study indicates hemp goes hot due to genetics, not weather or environment – Hemp Industry Daily

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Genetics

Fulgent Genetics: A Buy If You Believe COVID Testing Is Here To Stay – Seeking Alpha

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Genetics

Pioneering new framework highlights dual role of genetics and culture in inheritance – The London School of Economics and Political Science

A new framework which reconciles the roles of behavioural genetics and cultural evolution in inheritance and cuts through the nature/nurture debate has been put forward by researchers at the London School of Economics and Political Science (LSE).

The model, which is set out in a forthcoming paper in Behavioral and Brain Sciences, uses a dual inheritance approach to predict how cultural factors such as technological innovation can affect heritability. Heritability is the extent to which variation in a certain phenotypic trait, such as IQ, can be predicted by genetics as opposed to environmental factors such as access to education.

The new framework highlights how genes and culture are deeply intertwined. For example, humans have jaws too weak and guts too short for a world without controlled fire and cooked food. We lack the genes for fire-making or cooking and instead rely on culture to compensate. Alongside genetic evolution, culture evolves over time in response to ecological, demographic and social factors.

The authors note that when culture overlaps with genes, the impact of genetics on a trait can become masked, unmasked or reversed and the effects of a gene can mistakenly be attributed to the environment or vice versa.

This integrated approach challenges the simple nature/nurture debate and helps resolve controversies in topics such as IQ by revealing that behavioural and cognitive characteristics are reliant on a whole host of evolving interacting factors both genetic and cultural.

The cultural evolutionary approach also helps explain how factors such as rates of innovation impact heritability across different social contexts, helping resolve issues that arise from a disproportionately WEIRD (western, educated, industrialised, rich and democratic) literature.

Commenting on the new framework, paper co-author Ryutaro Uchiyama from the Department of Psychological and Behavioural Science at LSE said: Since its founding, the field of behavioural genetics has quantified the influence of genes by contrasting it with influence from the environment, but it has relied on an impoverished conception of the environment. Human environments are dynamically structured by cultural evolution, and this understanding forces us to reassess the statistical and practical meaning of genetic indices like heritability.

Paper co-author Dr Michael Muthukrishna added: Biological differences dont imply genetic differences culture is also biological. This new framework allows us to better understand how genes and culture interact to create us. As the paper reveals, high heritability does not mean schools and other aspects of the environment dont matter or that there is anything inevitable about who we are and what we become.

The paper Cultural Evolution of Genetic Heritability has been accepted by the journal Behavioral and Brain Sciences as a target article. The journal is currently soliciting reactive commentary on the target article from other researchers. The authors will respond to these commentaries in a follow-up article later in the year.

For a copy of the paper, please visit: https://www.cambridge.org/core/services/aop-cambridge-core/content/view/9CBEB629203EA430B6EE5549C5E729FC/S0140525X21000893a.pdf/cultural-evolution-of-genetic-heritability.pdf

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Pioneering new framework highlights dual role of genetics and culture in inheritance - The London School of Economics and Political Science

Genetics

Role of host genetics on gut microbiome is near-universal, but environmentally-dependent – UMN News

Taken together, the bacteria, viruses, fungi and other microbes that live in our intestines form the gut microbiome, which plays a key role in the health of people and animals. In new research from the University of Minnesota, University of Notre Dame and Duke University, scientists found that genetics nearly always plays a role in the composition of the gut microbiome of wild baboons.

In humans, research has shown that family members share a significant portion of microbes in their gut, but its hard to answer if our microbiome is shaped more by nature, such as those we inherit from our family, or nurture, such as the similar diets, environments and behaviors families share, said lead author Laura Grieneisen, a postdoctoral fellow in the College of Biological Sciences. Many human diseases and other markers of health have a genetic component. The number and types of bacteria in the gut are no different. By understanding the heritability of the gut microbiome will help us better link genes, the gut and health.

To examine consistent data, researchers turned to more than 16,000 microbiome samples collected from 585 wild baboons over the course of 14 years. The size and generational scope of this microbiome data crucial for understanding how the microbiome is affected by genetics (i.e. microbiome heritability) has not yet been collected in humans.

In the research, published in the journal Science, the team tested how host traits (e.g., age, sex), behaviors (e.g., social group membership, grooming), diet, pedigree relatedness, and environmental characteristics (e.g., season, year) predicted 1,034 gut microbiome traits.

Researchers found that:

Our results qualitatively change the fields perspective on the determinants of microbiome composition, said co-author Ran Blekhman, an associate professor in the College of Biological Sciences. From one in which the host genotype plays no role in the majority of microbiome taxa to one in which the host genotype nearly always plays a role. As a result, microbiome traits might evolve via natural selection on the host.

Researchers state that this opens the door to identifying individual microbes that are particularly shaped by host genetics.

As a result, if there are microbes that are heritable and linked to health outcomes, it would allow us to better understand the genetic basis of these outcomes, said Grieneisen. Most of the microbiome may be visible to natural selection on the host genome.

The researchers add that their results are consistent with past work: although the role of a hosts genotype is universal, their environment and behaviors are still much more important than genetics in shaping microbiome composition. The team will continue to work with the wild baboon dataset to pursue questions about the drivers and physiological consequences of long-term changes in the microbiome.

This research was supported by funding from the National Institutes of Health, the University of Minnesota Grand Challenges Biology Postdoctoral Fellowship, the Duke University Population Research Institute and the University of Notre Dames Eck Institute for Global Health.

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Role of host genetics on gut microbiome is near-universal, but environmentally-dependent - UMN News

Genetics

Genetics may play a role in the link between education, intelligence, and voter turnout – PsyPost

Voter turnout is an important factorperhaps the most important factorin ensuring that the democratic process properly represents a population. Despite this, governments around the world are constantly faced with poor turnout. Understanding how individual differences predict this is important to building meaningful interventions.

While it is known that education and intelligence correlate with voter turnout, the precise mechanism of this relation is unknown. The same goes for the well-established relation between genetics and voter turnout (between 40-50%, according to some studies). The authors of a recent study published in Human Behaviour decided to examine the two factors together, to see to what extent genetic influence on voter turnout was mediated by education and intelligence.

The authors also wanted to create a more robust study than previous experiments which have relied on reared-together twin studies (making it difficult to separate nurture from nature) and voter self-reporting, known to be particularly unreliable. Instead, the present study used a large (Danish) genetic dataset comprising roughly 47 000 individuals, in correlation with actual voter registration records.

The results of the study seem to agree with the authors hypothesis. That is, genotypes that predicted individual differences in education and performance on intelligence tests also predicted differences in voter turnout.

Its important to note, however, that these relations are correlational in nature (not causal), and that their mechanisms are not yet understood. The authors allude to previous studies, for example, which suggest that the influence of genetics on education attainment may be exerted via personality traits or, indirectly, through the family environment.

Nonetheless, the correlation is clear and robust. Individuals with a greater genetic disposition to obtain a degree of education one standard deviation higher than the mean were 2.66 times more likely to vote in municipal elections. Similarly, scoring one standard deviation higher on intelligence testing was correlated with a 1.85x greater likelihood to vote in national elections.

There are some limitations, including the fact that the data is limited to a single nation. Nonetheless, the studys large size and its robust correlational measures obtained through actual voter registration make this a particularly significant study statistically speaking, and lay the groundwork for interventions that will help increase voter turnout, buoying the democratic process.

The article, Genetic predictors of educational attainment and intelligence test performance predict voter turnout, was authored by Lene Aare, Vivek Appadurai, Kasper M. Hansen, Andrew J. Schork, Thomas Werge, Ole Mors, Anders D. Brglum, David M. Hougaard, Merete Nordentoft, Preben B. Mortensen, Wesley Kurt Thompson, Alfonso Buil, Esben Agerbo, and Michael Bang Petersen.

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Genetics may play a role in the link between education, intelligence, and voter turnout - PsyPost

Genetics

Mixed-ancestry genetic research shows a bit of Native American DNA could reduce risk of Alzheimer’s disease – The Conversation US

Since the human genome was first mapped, scientists have discovered hundreds of genes influencing illnesses like breast cancer, heart disease and Alzheimers disease. Unfortunately, Black people, Indigenous people and other people of color are underrepresented in most genetic studies. This has resulted in a skewed and incomplete understanding of the genetics of many diseases.

We are two researchers who have been working to find genes that affect peoples risk for various diseases. Our team recently found a genetic region that appears to be protective against Alzheimers disease. To do this, we used a method called admixture mapping that uses data from people with mixed ancestry to find genetic causes of disease.

In 2005, researchers first used a groundbreaking method called a genomewide association study. Such studies comb through huge datasets of genomes and medical histories to see if people with certain diseases tend to share the same version of DNA called a genetic marker at specific spots.

Using this approach, researchers have identified many genes involved in Alzheimers disease. But this method can find genetic markers only for diseases that are common in the genomes of the study participants. If, for example, 90% of participants in an Alzheimers disease study have European ancestry and 10% have Asian ancestry, a genome-wide association study isnt likely to detect genetic risks for Alzheimers disease that are present only in individuals with Asian ancestry.

All peoples genetics reflect where their ancestors came from. But ancestry manifests as both genetic variation and social and cultural experiences. All of these factors can influence risk for certain diseases, and this can create problems. When socially caused disparities in disease prevalence appear across racial groups, the genetic markers of ancestry can be mistaken for genetic markers of disease.

African Americans, for example, are up to twice as likely as white Americans to develop Alzheimers disease. Research shows that much of this disparity is likely due to structural racism causing differences in nutrition, socioeconomic status and other social risk factors. A genome-wide association study looking for genes associated with Alzheimers might mistake genetic variations associated with African descent for genetic causes of the disease.

While researchers can use a number of statistical methods to avoid such mistakes, these methods can miss important findings because they are often unable to overcome the overall lack of diversity in genetic datasets.

Disentangling race, ancestry and health disparities can be a challenge in genome-wide association studies. Admixture mapping, on the other hand, is able to make better use of even relatively small datasets of underrepresented people. This method specifically gets its power from studying people who have mixed ancestry.

Admixture mapping relies on a quirk of human genetics you inherit DNA in chunks, not in a smooth blend. So if you have ancestors from different parts of the world, your genome is made of chunks of DNA from different ancestries. This process of chunked inheritance is called admixture.

Imagine color-coding a genome by ancestry. A person who has mixed European, Native American and African ancestry might have striped chromosomes that alternate among green, blue and red, with each color representing a certain region. A different person with similar ancestry would also have a genome of green, blue and red chunks, but the order and size of the stripes would be different.

Even two biological siblings will have locations in their genomes where their DNA comes from different ancestries. These ancestry stripes are how companies like Ancestry.com and 23andMe generate ancestry reports.

Because genome-wide association studies have to compare huge numbers of tiny individual genetic markers, it is much harder to find rare genetic markers for a disease. In contrast, admixture mapping tests whether the color of a certain ancestry chunk is associated with disease risk.

The statistics are fairly complicated, but essentially, because there are a smaller number of much larger ancestral chunks, it is easier to separate the signal from the noise. Admixture mapping is more sensitive, but it does sacrifice specificity, as it cant point to the individual genetic marker associated with disease risk.

Another important aspect of admixture mapping is that it looks at individuals with mixed ancestry. Since two people who have similar socioeconomic experiences can have different ancestry at certain parts of their genomes, admixture mapping can look at the association between this ancestry chunk and disease without mistaking social causes of disease for genetic causes.

Researchers estimate that 58% to 79% of Alzheimers disease risk is caused by genetic difference, but only about a third of these genetic differences have been discovered. Few studies have looked for genetic links to Alzheimers risk among people with mixed ancestry.

Our team applied admixture mapping to a genetic dataset of Caribbean Hispanic people who have a mix of European, Native American and African ancestry. We found a part of the genome where Native American ancestry made people less likely to have Alzheimers disease. Essentially, we found that if you have the color blue in this certain part of your genome, you are less likely to develop Alzheimers disease. We believe that with further research we can find the specific gene responsible within the blue chunk and have already identified possible candidates.

One important note is that the genetic diversity that plays a role in disease risk is not visible to the naked eye. Anyone with Native American ancestry at this particular spot in the genome not just a person who identifies as or looks Native American may have some protection against Alzheimers disease.

Our paper illustrates that gaining a more complete understanding of Alzheimers disease risk requires using methods that can make better use of the limited datasets that exist for people of non-European ancestry. There is still a lot to learn about Alzheimers disease, but every new gene linked to this disease is a step toward better understanding its causes and finding potential treatments.

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Mixed-ancestry genetic research shows a bit of Native American DNA could reduce risk of Alzheimer's disease - The Conversation US

Genetics

3 Things About Fulgent Genetics That Smart Investors Know – Motley Fool

During the COVID-19 pandemic, Fulgent Genetics (NASDAQ:FLGT) was in the right place at the right time. Fulgent became a key provider of COVID-19 testing in 2020 and saw its revenue explode by almost 1,300% over the prior year. Few companies benefited more during the pandemic -- and few have a bigger cloud of uncertainty hanging over them as investors worry about what comes next.

The good news is that Fulgent isn't a one-trick pony. The company is going through a metamorphosis, strengthened by a reinforced balance sheet and a growing core business in an attractive genetic testing market. Investors should prepare to shift their perspective.

Image source: Getty Images.

Before the COVID-19 testing opportunity came along, Fulgent's core business was a small but fast-growing next generation sequencing (NGS) genetic testing service primarily focused on pediatric rare diseases.

That segment is still expanding fast. In the first quarter ended March 31, NGS volume grew 185% year over year from 13,000 to 38,000 tests, while corresponding revenue grew 115% to $16.7 million. Management is projecting NGS revenue of over $100 million in 2021, representing 170% year-over-year growth.

Fulgent has an efficient technology and operating platform generating gross margins of about 80% and operating margins above 70%. As a result, liquidity is a real bright spot for Fulgent. At the end of Q1, it reported $697 million in cash, cash equivalents, and marketable securities. Management expects to close the year with more than $1 billion in short-term liquidity, excluding any merger- and acquisition-related activity.

The encouraging growth in the core business is understandably offset by a rapid reduction in COVID-19 testing revenue. Unless there is a flare-up of infections from virus variants, COVID-19 testing revenue will continue to fall dramatically. Management is projecting $418 million in COVID-19 testing revenue for the remainder of the year, compared with $312 million in Q1 alone.

This precipitous revenue falloff is an operational challenge, but Fulgent has an experienced management team that over the past year has proven to be strong operators in building and scaling the business.

Fulgent will report quarterly earnings in early August. Smart investors will keep an eye on these three areas for signs management is executing on the long-term growth potential:

1. Continued COVID-19 testing

While testing volumes are declining, the endpoint is not zero. Fulgent has proven to be a high-quality, low-cost, fast-turnaround provider of gold-standard RT-PCR tests. Many screening programs are not allowing less sensitive antigen or rapid molecular tests to be used. As a result, Fulgent has been able to secure contracts for "return to normalcy" testing, particularly with school systems and the government.

The Department of Health and Human Services announced it will invest $12 billion in COVID-19 testing through the American Rescue Plan, with $10 billion going to schools. Fulgent management estimates that more than 1 million tests per day will be needed with this new program. Look for contract wins and continued testing volume in the near term.

2. Growth catalysts

Fulgent is expanding into additional genetic testing areas, including hereditary cancer, which is a high-growth area. There are more than 550 ongoing clinical trials for oncology genetic therapies, which will drive the need for more genetic testing and higher reimbursement over the coming years. Pharma companies are advocating and paying for genetic testing, since it will drive demand for their therapies. Fulgent has also established FF Gene Biotech, a joint venture focused on oncology in China, which is expected to be a $45 billion market. Stay tuned to these critical long-term developments.

3. Mergers and acquisitions

Fulgent's large cash position and strong operating leverage could make acquisitions a way to rapidly generate revenue that is accretive to the bottom line. In last year's Q4 conference call, CEO Ming Hsieh called out his interest in acquisitions to expand the core diagnostic business in Asia and Europe. It's a big world, and billions of people will need the genetic tests Fulgent is developing.

The market doesn't like uncertainty, which has helped push Fulgent shares down 56% from their 52-week high. The share price may go even lower as investors struggle to understand the profit picture in the next few quarters.

For patient long-term buy-and-hold investors with a tolerance for some uncertainty, Fulgent Genetics may actually be the best value biotech stock out there and could be a great addition for your portfolio.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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3 Things About Fulgent Genetics That Smart Investors Know - Motley Fool