Disorder Archives - InnoHEALTH magazine

Study: Increasing Protein and Dairy Intake Reduce Burden of Diabetes

InnoHEALTH Magazine — Mon, 11 Nov 2019 08:29:01 +0000

Increasing protein and dairy intake may help reduce burden of diabetes: A study

Diabetes – increase in blood glucose levels – is an emerging health problem, especially in developing countries. According to the World Health Organisation, India had 69 million diabetic individuals in 2015 and the number is projected to go up to 98 million by 2030. The problem is more serious for Asians as their genetic make-up puts them at a greater risk of diabetes at a younger age than their European counterparts.

If left untreated, diabetes can intensify to serious health conditions like blindness, kidney failure, heart problems, etc. Apart from genetic factors, the occurrence of diabetes is related to food preferences and lifestyles. Therefore, understanding the link between the consumption of various foods and the prevalence of diabetes in different states can help in devising effective strategies to address the problem.

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A new study has linked the food preferences of individuals to the prevalence of diabetes in various states of India. The study has found that eating calorie-rich food like sugar and honey increases the risk of diabetes while the addition of protein-rich food and dairy products in a meal can help reduce the risk of diabetes.

The study is based on data from the National Family Health Survey-4 (2015– 2016), 2011 census, data on per capita crop production, and consumption figures of different food groups from the 68th round of the National Sample Survey. It evaluated trends of food availability and preferences in various states with diabetes numbers.

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It was found that diabetes was more common in states like West Bengal and Kerala where people consume more non-vegetarian food than the one where the diet is predominantly vegetarian. This is because a vegetarian diet helps in diabetes management by making the body sensitive to the insulin hormone.

Researchers also noted that there were more diabetics in the states where people consumed more sugar and honey though this trend was not valid in the case of Maharashtra, Rajasthan, and Haryana. The study also found that eating protein-rich food such as pulses and nuts decreased the chances of diabetes. Similarly, states, where people ate more dairy products, had a low prevalence of diabetes.

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Diabetes, often dubbed as a lifestyle disorder, was also found to be high in urban districts than in rural areas. This is so because people in cities tend to be less physically active. This makes urbanization an important factor for the growing number of diabetics in the country. Also, diabetes was found to be more common in males than females as has been indicated in the earlier studies.

‘Our study has identified hotspot districts having a high prevalence of diabetes and recommended them to be targeted in public health programs,’ said Dr. Preeti Dhillon, author of the study and Assistant Professor at the International Institute for Population Sciences (IIPS), Mumbai. The analysis showed that 6.9% of adults in India between the age of 15-49 years have diabetes. Among the states and union territories, diabetes is highly prevalent in Andaman and Nicobar Islands, while the least in Rajasthan. The prevalence of disease was found to be more in districts that are close to the coastal areas. ‘The high prevalence of diabetes in Andamans and Lakshadweep is of interest as this has not been reported earlier and it would be worthwhile exploring whether any genetic or environmental factors contribute to this,’ commented Dr. V Mohan, Director, Madras Diabetes Research Foundation. Though he was not associated with the study.

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Dr. Anoop Misra, Vice President, Diabetes Foundation (India), commented that while this study provided new information about dietary context and prevalence of diabetes, it must be understood that diabetes is a multifactorial disease. Genetics, physical activity, alcohol consumption, and other lifestyle factors should be taken into consideration before establishing conclusive links. Food intake is a continuously changing and dynamic process and cannot be completely captured in a cross-sectional snapshot. He agreed, however, that high protein intake is needed for Indians as it boosts glucose metabolism in muscles reducing incidences of diabetes. The research team at IIPS included Koustav Ghosh and Gopal Agrawal apart from Dr. Dhillon. The results of this study have been published in the Journal of Public Health.

Credits: India Science Wire

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Importance of Nutrition for Improving Academic Score

InnoHEALTH Magazine — Tue, 26 Mar 2019 10:20:56 +0000

In today’s times, when exceptional intelligence or gifted child prodigies receive media attention, and100% cut-off marks are projected as achievable targets; 95% marks in board exams are considered average. Children today are not only having to deal with peer pressure, and body image issues; but also, the pressure of scoring very high grades to get through a good college in their chosen fields. With mind-boggling competition, everyone wants their children to be exceptional achievers. It is no surprise that the foremost concern of most parents is pertaining to the academic performance of their children.

Nutrition And Cognitive Health

A child belonging to the lower socioeconomic status, not only has to struggle with a lack of educational opportunities but also a lack of healthy nutrition. This child will most likely go through their formative years having a poor diet which lacks most essential nutrients. This may lead to a lower academic performance throughout the school years, which in turn may lead to fewer job opportunities resulting in lower socioeconomic status. When the same child grows up and starts own family, the cycle continues to the next generation. On the other side of the socio-economic spectrum, a child belonging to an affluent urban family also deals with poor nutrition but in a very different way. More than one-third of such children and adolescents, aged 6yrs to 19yrs, are considered overweight or obese. This is because these children are overfed but remain undernourished. Studies show that more than 90% of children in urban areas, belonging to affluent families, consume more than the recommended amounts of saturated fats and added sugars. The consumption of fruits and vegetables in these children is also observed to be less than the recommended intake. Thus, even though they may appear to be well nourished, they have many underlying nutritional deficiencies. Some of these deficiencies impact the performance of these children in academics and extracurricular activities.

Relationship Between Breakfast And Academic Performance

There have been many studies that have looked at the relationship between breakfast consumption and academic performance in children, and most have concluded that eating breakfast improves cognitive functions like memory recall. A study was done in Norway which looked at 475 high school children, found that those who ate breakfast regularly had fewer difficulties in learning, especially mathematics, besides improved reading and writing. Another study carried out in China on kindergarten students found that kids who ate breakfast had higher IQs (intelligent quotients). This was independent of the education level of the parents, or the family’s socioeconomic status. Many similar studies carried out over the years have reported that skipping breakfast was associated with decreased cognitive performance (e.g., alertness, attention, memory, processing of complex visual display, problem-solving, etc.) among the students. Children who do not eat an adequate breakfast can also suffer from hunger pangs while in school, headaches, and stomach pains due to excessive acid, etc. This, besides being a source of distraction for children, can also lead to absence from classes, which in turn can affect academic performance in school.

Relationship Between Specific Foods And Academic Performance

Interestingly, studies have not just found a positive association with breakfast consumption but also between the quality of meals and academic performance. A study carried out in Scotland investigated the consumption of sugary drinks, sweets, chocolates, pizza, savory snacks and hot dogs with learning abilities. The study found that children who had a higher consumption of these foods had increased mathematical difficulties as compared to children who had a more nutritious dietary intake. Another study found that children who ate healthier foods with a low glycemic index had better attention span, word recall and reaction time than children who consumed food with a higher glycemic index that leads to high blood glucose levels soon after consumption Sub-optimal intake of foods, such as fruits, vegetables, and dairy products, has also been associated with lower grades among students.

Relationship Between Physical Activity And Academic Performance

Physical activity is another very important factor that affects academic performance. Today, many mothers with children as young as 10 years old, feel that enrolling their children in extracurricular activities will take time away from their studies and result in poorer academic results. On the contrary, studies have shown that students who are physically active, perform better in school, compared to children who are physically inactive. These kids not only have better grades but also better attendance and fewer absenteeism, better memory recall, concentration during lessons and lesser disciplinary problems. Physically inactive children who gradually increased their activity showed improved memory and cognitive function than when they were physically inactive.

Relationship Between Specific Nutrients And Academics Performance

There are specific micro-nutrients that have been associated with better academic performance.

Children with deficiencies of micronutrients like vitamin A, B6, B12, folic acid, iron, zinc, and calcium, have shown to score lower grades and result in higher absenteeism. Two nutrients, known to have the strongest relation to school performance, are iron and zinc. Iron is an integral part of hemoglobin which is the oxygen-carrying molecule in the blood. Deficiency of iron is called anemia. Symptoms of iron deficiency include fatigue or tiredness, lethargy, slowed growth and development, poor appetite, abnormally rapid breathing, behavioral problems or disciplinary issues and susceptibility to frequent infections. All these individually and collectively can lead to increased absenteeism and thereby decreased academic performance. Iron deficiency also directly affects the ability to undertake physical activity, which in turn can further affect performance in school. Zinc is mainly needed for the body’s immune system to work properly. In addition, it is involved in cell growth, wound healing and for the sense of taste and smell. Symptoms of zinc deficiency are depression and psychological disorders, impaired immunity, impaired growth, diarrhea, delayed sexual maturation, alopecia or abnormal hair growth, impaired appetite, altered cognitive functions and altered sense of smell and taste. Zinc deficiency also leads to poorer performance in school. This can be due to the fact that children with zinc deficiency are more prone to catching an infection and falling sick, thereby missing classes, their ability to memorize is affected, there are psychological disorders that can affect learning, etc. So, how can parents ensure that they give their children the best advantage for improving academic performance? Some of the suggestions are as follows:

Give them a nutritious breakfast.
Always have healthy snacks stocked in your pantries, so that kids eat the right foods throughout the day.
Don’t be fooled by “Low Fat” labels. Such products are usually loaded with sugar. Similarly, “natural” does not always mean whole grain or unrefined ingredients. Educate yourself about reading the labels and identifying what they mean.
Encourage your children to be physically active, it will not only help them improve their academic performance but also help in building their overall personality.
A good healthy balanced diet will ensure that your children do not suffer from any nutritional deficiencies.

Kanupriya Khanna, a Sr. Consultant Nutritionist & Dietitian specializing in pediatrics, is a private practitioner at Greater Kailash, New Delhi. For over 15 years, she has been working with mothers and children to create more wholesome food habits with the least restrictions and disruptions. She pioneers the science of healthy eating, using fresh ingredients and foods that are easily available and can be integrated easily into daily lives.

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Study : Long Term Impact of Stroke

InnoHEALTH Magazine — Mon, 26 Nov 2018 09:36:42 +0000

A new study looks at what problems affect people most after a stroke and it provides a broader picture than what some may usually expect to see.

Stroke affects more than just physical functioning, according to a study recently published in Neurology, the medical journal of the American Academy of Neurology.

“People who have an only mild disability can often have ‘hidden’ problems that can really affect their quality of life,” said study author Irene L. Katzan, MD, MS, of the Cleveland Clinic in Ohio and a member of the American Academy of Neurology.

“And for people with more disability, what bothers them the most? Problems with sleep? Depression? Fatigue? Not many studies have asked people how they feel about these problems, and we doctors have often focused just on physical disability or whether they have another stroke.”

The study involved 1,195 people who had an ischemic stroke or a stroke where blood flow to part of the brain is blocked. They were asked questions about their physical functioning, fatigue, anxiety, sleep problems, thinking skills such as planning and organizing, how much their pain affects other aspects of their life and their satisfaction with their current social roles and activities. Participants took the questionnaires an average of 100 days after their stroke, and about a quarter of the participants needed help from a family member to fill out the questionnaires. Researchers also measured their level of disability.

The people with stroke had scores that were considerably worse than those in the general population in every area except sleep and depression. Not surprisingly, the area where the people with stroke were most affected was physical functioning, where 63 percent had scores considered meaningfully worse than those of the general population, with an average score of 59, where a score of 50 is considered the population average.

On the question about whether they were satisfied with their social roles and activities, 58 percent of people with stroke had scores meaningfully worse than those of the general population.

“People may benefit from social support programs and previous studies have shown a benefit from efforts to improve the social participation of people with stroke, especially exercise programs,” said Katzan.

The thinking skills of people with stroke in executive functions, or planning and organizing, were also affected, with 46 percent having scores that were meaningfully worse than the population average.

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“The social participation and executive functioning skills are areas that have not received a lot of attention in stroke rehabilitation,” Katzan said. “We need to better understand how these areas affect people’s well-being and determine strategies to help optimize their functioning.”

Limitations of the study include that the questionnaires did not ask about other problems that can occur after stroke, such as communication issues.

Also, the study participants had milder strokes on average than people with stroke overall and the average age of participants was 62, which is lower than the average age of 69 for people with stroke overall.

Informatively, American Academy of Neurology is the world’s largest association of neurologists and neuroscience professionals, with 34,000 members. AAN is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimer’s disease, stroke, migraine, multiple sclerosis, concussion, Parkinson’s disease, and epilepsy.

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INDIA'S NUTRITION ATLAS GOES LIVE

InnoHEALTH Magazine — Mon, 22 Jan 2018 05:23:24 +0000

The Hyderabad-based National Institute of Nutrition (NIN) has developed the country’s first Nutrition Atlas to provide all the relevant data and information about nutrition.

The Nutrition Atlas provides information and data on nutritional status of population groups at national and state levels, along with an overview of nutrition-related deficiencies, disorders and prevalence levels in various parts of the country along-with information on nutrients, nutrient rich foods, nutritional deficiency disorders and a host of other topics.

The portal also includes information on nutrition rich foods and nutri-guide for various nutrients, minerals, essential amino-acids, fatty acids, dietary fibers and proteins, along with their biochemical cutoffs, recommended dietary allowances, signs and symptoms and dietary sources.

The Atlas is interactive and displays information in the form a user may select and has been developed through a long drawn, cohesive and technical exercise by a multidisciplinary team in the bioinformatics division of NIN. It makes use of publicly available data sources like reports of National Nutrition Monitoring Bureau, National Family Health Survey, World Health Organisation and other public databases. The Dashboard acts like an information management tool, helping the user track data on under nutrition, over nutrition, overweight, obesity and communicable and noncommunicable diseases. It can also provide different time trends on each of these parameters. The development conducted the research under ICMR.

ARTICLE SHARED FROM ‘INDIA SCIENCE WIRE’

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AYURVEDA: MOTHER OF ALL HEALINGS

InnoHEALTH Magazine — Mon, 27 Nov 2017 09:27:56 +0000

The fundamentals on which the Ayurvedic system is based are essentially true for all ages and so can be easily adopted time after time, century after century – By Indu S Arya

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Ayurveda is generally understood as ‘Science of life’ translating ‘Ayuh (r)’as life and ‘Veda’ as science. Ayurveda is an ancient system of life and also the oldest surviving medical system in the world. Dating back almost 5000 years, it is also considered to be an ancient science of healing that enhances longevity. It has evolved from the quest to have a happy life, through a deep understanding of creation and its maintenance, perceived and conceived by the rishis or seers of ancient India. Ayurveda emphasizes upon life in general with bit more emphasis on human life.

Its influence can be found in many ancient traditional methods of healing including Tibetan, Greek, and Chinese medicines thus making it the ‘mother of healing’.

The fundamentals on which the Ayurvedic system is based are essentially true for all ages and so can be easily adopted time after time, century after century. The philosophy of Ayurveda teaches a series of conceptual systems characterized by balance and disorder, health and disease. It teaches that am person’s mental, emotional and spiritual being are all interconnected and any kind of imbalance between them results in health disorder and diseases. Therefore, to be healthy, harmony must exist between the purpose for healing, thoughts, feelings and physical action.

Health and disease are defined in a very special way in Ayurveda. Ayurveda’s central tenant is that life is a manifestation of mind, body, soul and spirit. Body and mind are prone to suffering while the spirit is free of any such trappings of life. Thus to remain healthy and happy, efforts are required to be made in the direction of maintaining harmony among all these elements and only then can one get closer to the goal of longevity and disease free life.

Science of Ayurveda

Ayurvedic science is not merely a traditional Indian form of medicine but a perennial naturopathic system of healthcare that has survived the test of time as well as onslaught of modern science and methods of treatments. Based on wisdom acquired through the centuries, the main aim of Ayurvedic science is to achieve perfect health by creating an equilibrium of perfect harmony between human body and the environment it habitats.

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Ayurveda is also known as the science of living a healthy and disease free life. It is built on the premise that in olden days, man used to live close to nature and whenever he got exposed to some disease, he used to cure himself using resources and material provided by the Mother Nature. It therefore would not be wrong to say that Ayurveda charts out a health patter based on nature and its natural resources.

The Vedic philosophy believes that human beings are all a part of nature. Just as animals and plants are interdependent on each other to create balance within their beings, there is a concurrent and inherent connection between the universe and human beings. The complex world that the human beings reside in, is perpetually exposed to environmental changes. Any amount of change in weather, lifestyle, diet, work, emotions and relationships can easily tip the balance and negatively influence an individual’s state of mind, body and soul.

Ayurveda calls for a complete harmony of human body with the elements of nature and the surrounding environment for a stress free and healthy life. The Ayurvedic science does not merely deal with medical science but its scope goes much beyond the universe of the conventional science. It also includes factors like herbal medicine, body works, and surgery apart from social, psychological, ethical, spiritual and intellectual life of human beings.

Ayurvedic Body Types

According to Ayurveda, each one of us has a unique mix of three body principals that constitutes our mental, physical and spiritual well-being. These three principals are known as doshas, which are further classified as Vatta (air ether), Kapha (water-earth) and Pitta (water). But each individual has its own unique constitution that is usually governed by one or two of the doshas predominantly. It means that that our Ayurvedic constitution is mainly be either of these doshas or a mixed constitution of two doshas like Vatta & Kapa, Kapa & Pitta or Vatta & Pitta.

Kapha:

Kapha governs all structure and lubrication in the mind and body. It is the principle that holds the cells together and forms the muscle, fat, bone, and sinew. It controls weight, growth, lubrication for the joints and lungs, and formation of all the seven tissues — nutritive fluids, blood, fat, muscles, bones, marrow and reproductive tissues. It helps build excellent stamina but when it goes out of balance it can also cause a person to become overweight, sleep excessively, and suffer from the problem of diabetes, asthma and depression.

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Pitta:

Pitta dosha controls digestion, metabolism, and energy production. The primary function of Pitta is transformation. Those with a predominance of the Pitta principle have a fiery nature that manifests in both body and mind. Pittas have a lustrous complexion, perfect digestion, abundant energy, and a strong appetite. When out of balance, Pittas may suffer from skin rashes, burning sensations, peptic ulcers, excessive body heat, heartburn, and indigestion.

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Vatta:

Vatta dosha is known to govern all the movements of mind and body. From controlling the blood flow to elimination of the waste and harmful toxins to breathing and the flow of thoughts in the mind; the vatta dosha is like a predominant force that minimizes stress and feeds the creativity within you. If the vatta dosha is in balance, you will feel energetic, enthusiastic and lively, but the moment it becomes imbalanced, it manifests in the body problems like constipation, hypertension, fatigue, digestive challenges and restlessness among others.

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Ayurvedic Herbs

Ayurveda understands health as a reflection of a man living in harmony with nature and disease arises when this harmony gets disturbed. In the ancient times, rishis and sages believed in Ayurvedic herbs as the solution to cure a number of health problems and diseases. The conducted thorough studies and experimented with these herbs before arriving at any conclusion regarding the accuracy of the medicinal values of these herbs and their effectiveness in treating various ailments and diseases. Due to their natural Ayurvedic herbs are considered to be free of any side effects and thus enjoy a global appeal.

Ayurvedic medicines are mostly formulated using a mix of herbs and other plants, including oils and common spices. By combining several kinds of plants and herbs to get benefit of the drug or therapeutic value, Ayurveda has proven itself capable of overcoming various health problems that occurs in the human body. Today, Ayurveda is being widely used in modern medicine systems. This was triggered by a number of research-conducted by scientific research and has proved how effective and positive the role of plants or herbs can be on human health.,/p>

Herbs play a vital role in the Ayurvedic system and a small herb is known to dissolve stones in the kidney, bladder and gall-bladder easily and effectively. Apart from timely cure, Ayurvedic herbs are also know to provide permanent relief from a disease by removing the metabolic toxins from the body. Know more about the various Medicinal Plants and Their Uses.

Ayurvedic Home Remedies

Ayurvedic home remedies are considered safe as they are natural and herbal in nature, therefore, free from any side effects. They have an advantage over other methods of treatment as Ayurvedic remedies are known to cure the disease form the root, effectively. Treating an ailment or a disease using Ayurvedic remedies will not only help you get rid from it permanently but also aid you in leading am healthy life in the long run.

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Some of the major benefits of using homemade Ayurvedic remedies include:

• Ayurvedic remedies are preventive as well as protective and curative in nature.

• As the emphasis is on using herbal and natural ingredients or things that can be easily found in the kitchen, it does not pose any danger of being toxic.

• These remedies are free of any side-effect and provide long term or permanent cure from the disease.

• The remedies also emphasize on the need for a lifestyle change with modification required in one’s diet, sleep pattern and other basic everyday activity. Therefore, the holistic approach towards the overall well-being of a person is much effective as compared to other conventional forms of modern day science.

Ayurvedic Medicines

Ayurvedic Medicines are fast gaining popularity across the world. One of the major reasons for it being that Ayurveda seeks to normalize body functions with varied techniques including advice on food and activity, internal herbal preparations, purification treatments (panchakarma), and surgical methods (shalya chikitsa).

Ayurveda is based on the belief that the delicate balance of mind, body and spirit determines health and wellness of the body. The goal of Ayurveda is prevention as well as promotion of the body’s own capacity for maintenance and balance. Ayurvedic medicines are non-invasive and non-toxic in nature and therefore are free from any side effects.

Using Ayurvedic medicines in your daily life enables you to re-establish balance and harmony in body’s system, aids in detoxification and cleansing of the body by removing accumulated toxins and normalize body’s functions. Products made using Ayurvedic plants have a stronger action on the body as they help in stabilizing the doshas.

Tulsi, Guduchi, Ajwain, Brahmi, Shilajit and Ashwagandha etc., are some of the most commonly used herbs in Ayurvedic preparations. Each of these herbs or spices hold a multitude of benefits — for the mind, body, and spirit and can be easily used internally or externally, depending on the need.

Ayurveda to the rescue

The daily activities of life in the modern world systematically wear us down and speed up the aging process. Ayurveda maintains it is crucial to practice daily rejuvenative regimens to counteract the stressful wear and tear of everyday life. According to Ayurveda the most important rejuvenative routines for your life are:

Going to bed by 10:00 PM. This simple habit is one of the most powerful techniques for health and longevity, according to Going to bed by 10:00 PM. This simple habit is one of the most powerful techniques for health and longevity, according to Maharishi Ayurveda.

Meditate daily any meditation that does not involve concentration (which has been shown to increase anxiety) can be very helpful. I highly recommend the twice-daily deep rest and enlivenment of the Transcendental Meditation (TM) technique, whose benefits have been verified by over 700 published research studies.

Eat organic, whole fresh food that is freshly prepared. There is an Ayurvedic saying: “Without proper diet. Medicine is of no use. With proper diet, medicine is of no need.” Be sure to avoid those leftovers, processed and microwaved foods for better nutrition and vitality.

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HOW GENETIC TESTING CAN INNOVATE HEALTHCARE DELIVERY

InnoHEALTH Magazine — Tue, 02 May 2017 06:16:23 +0000

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How Genetic Testing can Innovate Healthcare Delivery

Dr. V.L Ramprasad holds a Master’s Degree and Ph.D. from BITS, Pilani. He has worked as Scientist (Molecular Genetics) at Vision Research Foundation, Sankara Nethralaya and was handling Affymetrix and Illumina technologies at Spinco Biotech. He also worked as Principal Scientist at SciGenom Labs. He has 17 peer-reviewed publications to his credit.

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Though in a nascent stage, precision medicine is evolving at a fast pace. There are many labs set across the country and world which offer genetic testing at an affordable fee. Moving from a traditional medical model of treating pathologies to an individualized predictive and preventive model of personalized medicine promises to reduce the healthcare cost on an overburdened and overwhelmed system. The increasing number of catalogs of causative and risk genes will provide a foundation for Personalized Medicine and pharmacogenomics. The advent of NGS has helped in bringing down the cost of genome sequencing to less than $1000. However, there are many other new technologies on development that will make the sequencing even faster and more economical.

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The current medical model focuses on the detection and treatment of pathologies. Treating disorders, especially on advanced states, is very expensive for patients and society in general. The Human Genome Project not only provided the essential reference map for the human genome but also stimulated the development of technology and analytic tools to process massive quantities of genomic data. Thus, accelerated the early detection of disorders and the identification of pharmacogenetic markers to customize treatments. Furthermore, the Human Genome Project has significantly contributed to the discovery of numerous genetic markers, several human disease-specific genomes, including cancers. Because of increased discovery rate of clinically relevant biomarkers, the relevant application of conventional molecular diagnostic methods like low- and/or medium-throughput sanger sequencing is restricted as they cannot screen such a huge number of genetic markers with a limited tumor/disease specific material. The advent of next-generation sequencing (NGS) technologies has not only reduced sequencing cost by orders of magnitude, but also significantly increased the throughput with just a few or single cell. One such new development in pre-natal genetic testing is “pre-implantation genetic screening”.

Pre-Implantation Genetic Screening

Chromosome segregation during female meiosis is particularly error prone in humans. These chromosomal abnormalities also called as Aneuploidy, worsen with advancing age. Many of recent studies have demonstrated that aneuploidy rates in the oocytes of women over 40 are over 75%, whereas approximately a quarter of oocytes from women in their early 30s are chromosomally abnormal.[1] A majority of human embryos produced from such oocytes using in vitro fertilization (IVF) techniques are aneuploid and has been shown that they fail to implant in the uterus, although a minority do succeed in forming a pregnancy only to later miscarry.[2] Hence, reliable identification of euploid (healthy) embryos is inevitable, but the main obstacle to testing human embryos for aneuploidy is the extremely limited amount of tissue available for analysis. Thus, most methods currently available for the genetic analysis of pre-implantation embryos may not be suitable and suffer from shortcomings which limit their clinical applicability. A few chromosome screening methods applicable to single cells biopsied from pre-implantation embryos are available, but the high cost of testing has restricted their usage.[3] New advancements in NGS technology provided an excellent alternative tool for the identification of chromosomal abnormalities using a few or single cell.

Next Generation Sequencing (NGS)

Next-generation sequencing popularly referred to as ‘high-throughput sequencing’. The advent of next-generation sequencing (NGS) technologies in the context of pre-natal genetic testing provides highly accurate, low-cost diagnosis of aneuploidy in cells from human pre-implantation embryos and is rapid enough to allow testing without embryo cryopreservation. Many reports indicated NGS improves IVF success rates. Thus, NGS becomes a reliable aneuploidy screening method and has the potential to revolutionize pre-implantation genetic screening (PGS).[4]

Furthermore, NGS becomes an integral part of precision medicine as it provides a viable alternative for characterizing genomic aberrations in tumors/other human disease for predictive and prognostic purposes with its massively parallel sequencing capability. This specific advantage of NGS technology enables testing of multiple genes/clinically relevant biomarkers per tumor as the standard-of-care, which may not be feasible with low- and medium-throughput traditional techniques such as Sanger sequencing, pyrosequencing, allele-specific polymerase chain reaction (PCR).[5,6,7]

The predominantly used NGS technologies are from:
• Illumina (HiSeq 2500/4000/X Ten etc.)
• Roche Applied Science/454 Life Sciences
• Life Technologies (Ion Torrent/Proton)
• Pacific Biosciences (Sequel)

The application of NGS technology in genetic testing is enormously increasing because it requires a single input of relatively low-quantity DNA or RNA for the screening of multiple markers, in contrast to traditional sequencing technologies, which need cumulatively larger quantities of input nucleic acid. NGS can provide simultaneous screening of a variety of genomic aberrations such as single-nucleotide variants (SNVs), multiple-nucleotide variants (MNVs), small and large insertions and deletions, and copy number variation (CNVs) of the genes. However, the benefits offered by these NGS technologies come with several challenges that must be adequately addressed before they can be transformed from research tools to routine clinical practices. Integrating NGS into a clinical diagnostic setting requires thorough validation with respect to consistent performance and accuracy, as per the stringent regulations and guidelines established by the regulatory agencies governing the clinical laboratories.[8]

Genetic Testing is Now More Accessible

More than a thousand genetic tests are available today and the number is still increasing. Genetic test panels give patients an insight into diseases which they may have inherited and give them an understanding of what preventive measures need to be taken. The results help understand the chances of a person liable to get inflicted by a genetic disorder and passing it on to someone else and vice versa. An expert in genetics is the best person to seek advice from, for those wanting to take a genetic test as such tests include risks and have their limitations as well. There are many labs set across the country and world which offer genetic testing at an affordable fee. Though many test labs have been established and it has been made more accessible, it continues to remain an expensive affair for the middle and lower middle sections of society in India.

Precision Medicine

Precision medicine or ‘specific treatment’ helps researchers and doctors to understand the exact treatment they need to offer to the patients. The advent of precision medicine is moving us closer to more precise, predictable and powerful health care that is customized for the individual patient. The approach of personalized therapy involves having a deep understanding of the unpredictability in a person’s genes, his/her environment and lifestyle. A complete bespoke treatment with appropriate decisions customized to a person’s medical condition. The therapies adopted range from imaging to molecular diagnostics and analytics/software and will be in accordance with the person’s genetic analysis. As mentioned previously, NGS becomes an integral part of precision medicine because of its high throughput and multiplexing capabilities which enables to analyze many clinically relevant markers across many samples.

The Future

Though it’s a nascent stage, precision medicine is evolving at a fast pace. Moving from a traditional medical model of treating pathologies to an individualized predictive and preventive model of personalized medicine promises to reduce the healthcare cost on an overburdened and overwhelmed system. The increasing number of catalogs of causative and risk genes will provide a foundation for Personalized Medicine and pharmacogenomics. The advent of NGS has helped in bringing down the cost of genome sequencing to less than $1000. However, there are many other new technologies on development that will make the sequencing even faster and more economical, such as Oxford Nanopore technologies (GridION™ System based on nanopore-based sensing). The future perspective of this advanced technology may reduce the cost of screening diseases specific gene panel to $100 within a time-frame of an hour. Research is proving that the therapies which are intended for one type of cancer could, in the future, be used to treat other types of cancers, on the premise of changes occurring in a person’s DNA. Discovery of mutations via sequencing and optional treatments are some of the findings through the process of sequencing and these may offer much hope towards better customized treatments for individuals.

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Refernces:
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