Archive for July, 2020

Faith at her hom during the interview

Faith Were Mukulu was a modern day sports woman trapped in a different generation as she dedicated 50 years to sports service.

Three months shy of her 91st birthday, the confident and energetic nonagenarian looks back at what her life in sports service was as she broke barriers to see to it that netball and athletics rose to the forefront.

Early LifeShe pioneered the growth of the Uganda Netball Association where she became the first female netball referee in Uganda and East Africa with a first class. Her knowledge of the game was head and shoulders above anyone's and for that reason alone, she traversed Uganda and East Africa teaching the sport.

"In our time, sports was not about money but more about love and passion. We were never paid for playing. I used to play netball and athletics which sometimes required me to run from one activity to the other," Were explained.

Born on October 5 1929, to Daudi and Abigail Were, she was raised in Mukono where her parents had moved from Busia before their marriage in 1918. She attended Misindye-Goma Primary School, Mukono Primary School and Nsangi Primary School where she completed her primary leaving certificate.

She later joined Ndejje Teachers Training College (TTC) where she got her grade one teaching certificate in 1948-1951. She upgraded to a grade two certificate between 1960-1963 at Busubuzi TTC, Ndejje TTC and finally Kibuli TTC.

Start of Sports serviceGetting started in sports was not easy because she grew up at a time when boys and girls were assigned sports based on their gender at the height of the British colonial rule in the 1930's and 1940's.

Boy's thanks largely to their genetics were expected to play the more gender appropriate and contact laden football while the girls could only apply their deft touch to netball. This left athletics as the only discipline that was gender neutral which gave many individuals a chance to double up wherever they could.

Perhaps it's because of these circumstances that Mukulu whose time at the Ndejje only managed to fuel her appetite for netball and athletics.

With her teaching certificate in hand she was posted to Kako Primary School as a games teacher in 1952. A year later she joined Namirembe Infant Primary School where she spent the next 31 years of her life teaching and imparting sports knowledge to the kids.

"I was a games mistress at Namirembe Infant School and because I did so well with my school I was chosen as a national team matron (athletics)," explained Were.

Her work with Namirembe was so good that she created one of the best netball and athletics teams in the country.

She broke bounds by becoming an administrative member of the Uganda Netball Association in 1954 which led to her greatest sports management roles of her life. Athletics

At only 25 years old she was asked by the National Council of Sports (NCS) to become national team matron for girls or what is in the modern day known as a team manager.

"At first I didn't want the role because I was still young and I thought it would mess with my faith but the head teacher at Namirembe advised me to take the opportunity," Were said.

For a young lady who gave her life to Christ in 1948, the role was a challenge but it was God's plan.

"As much as I had rejected the role three times, it worked wonders because the players respected me and even started calling me Mukulu which I started using officially as well," she said.

She found fulfilment in the Uganda Athletics team which was very good and was revered within East Africa where they dominated.

In that key role she was able oversee the national teams that travelled for games in Kenya, Tanzania, Nigeria and Zambia. She travelled to New Zealand for the Commonwealth Games and oversaw the national teams for various global netball showpieces.

"I was in charge of ensuring team discipline and we had good players like the great John Aki-Bua who did so well in the Munich 1972.I never experienced a lot of hardship while in charge of the team because all Uganda's players where very engaged in doing well."

After she finally accepted her new role after a fourth appointment by the national council of sports, in 1966 she led the national athletics team to Kenya and Tanzania for various competitions. She then travelled with the national tem to the East and Central African Championships in Lusaka Zambia 1971, All Africa Games Nigeria 1973, and Commonwealth Games New Zealand 1974, World Netball Championships 1979, East and Central African Games 1985.

NetballWhile in Netball, she practically carried the sport on her shoulders as she took her role to grow the sport to another level. She went on to Open the Buganda Netball Association, she started the first women's netball team called Kampala City Council currently known as the Kampala Capital City Authority in 1965.

She also started the Nabbagereka Netball Cup which was a tournament geared towards taking netball to the masses.

"Growing up very few schools used to play netball because it was only a select few who took part in playing the sport like Gayaza, Nsube, Buddo but me and a few colleagues who included rev. Kakooza, Israel Kanankulya decided to start the Nabagereka Netball Cup to take the sports to other schools," she said.

In the same period she took on her role as team manager for the national athletics team. In 1968 she became the first female netball referee in Uganda and the rest of East Africa.

She was one of five referees selected to officiate in the 1979 World Netball Cup in Trinidad and Tobago . It was a rude awakening for her as she had to watch the national team lose badly but in essence they learnt from the experience.

"I officiated in the 1979 World Cup and the person who had earlier coached me nominated me to take part. Uganda had a torrid world cup that year because they were first timers and simply out of depth. The whites were on another level they would jump like monkeys and would pass the ball sometimes in the air which was nothing the team had ever seen," she recounts.

She credits former minister Bidandi Ssali as he helped the women's team to travel.

She led the national netball team to the East and Central African Netball Championships in Lusaka 1985 as head of delegation before seating as an executive member in the National Council of sports from 1988-1989.

She officially retired from active sports in 1990 but has tried her level best to keep tabs on the national teams for netball and athletics.

Reservations"My only disappointment is that Ugandan netball has gone quiet. Yes the team has been to the World Cup but so did we in 1979. I would like to hear more about the sport because during my time I would go on radio and educate the masses about the sport of netball," she said.

Her only regret is that the best athletes like Aki-Bua are no more but would have loved for the rest to see them at their best.

"John Aki-Bua was very good but he wasn't the only one. Our boys were very good here and within East Africa and so were the girls. If only you had seen Mary Musanyi, Christine Kabanda and Beatrice Ayaa at their best you would have been impressed."

She has advised girls to love what they do and also urged government to continue investing in sports like netball.

"I advise young girls to love netball so much because we also loved it. They should put emphasis on our sports as women," she concluded.

More here:
Faith Were: A 91 Year Old Administrator With A Heart For Sports - New Vision

Behaviour is satellite responses to its environment generated by our social brain the system which we consider as mind. Mind endeavour over persuasion on which behaviour develops. Our characters are responses of some hormones produce in the cell of different gland. The shift in concentration of hormones leads to change in character.

This article reviews various effects of hormones on our physiological status and hence behavioural responses. All the body hormones produced by body cell are actually controlled and managed by the genes present in the cell. As the brain (hypothalamus) sense any character or any situation it sends the response to various hormone glands and the glands synthesis the protein as per the command of active gene.

Depending upon the circumstances behavioural response shifts vary wisely. As the behaviour is controlled by the hormones, the genes which are modulating hormones synthesis must be switching off and on as per response from brain. Specific hormone for the specific task of behaviour is produced under the command of brain. We have tried to establish a relationship between behaviour and genes so that a new study should carry out in the motive to control the gene activity by the mode of behaviour psychology. The word Acharangenetics can be used to express the relation of behaviour psychology and genes. The wordAcharangeneticsis a compound word, form by combination of two words Acharan Hindi origin word meaning behaviour and the second word is genetics the study of heredity.

The strength of any construction is understood by its pillars which are multidisciplinary in nature. To hold its existence one has to focus on its sub fundamental phenomenon, that is, behaviour. According to psychology, behaviour comprises of satellite responses to its environment generated by our social brain (Frith, C. D., 2007) the system which we consider as mind. The conscious exercise of faculty and thought are considered very important for development of mind. Mind endeavour over persuasion on which behaviour develops. Psychological practice is very commonly performed by psychologist in order to provide counselling to a person living life with some non-productive state of mind (Strong et al., 1992).

Hence, counselling can help a person to generate positive psychology, and stabilize the social life of a person with any social psychological disturbance (Harris et al., 2007). Our characters are responses of some hormones produce in the cell of different gland. The shift in concentration of hormones leads to change in character. This article reviews various effects of hormones on our physiological status and hence behavioural responses. Body hormones produced by body cell are actually controlled and managed by the genes present in the cell. As the brain (hypothalamus) sense any character or any situation it sends the response to various hormone glands (Knobil, et al., 1980; Schally, et al., 1973) and the glands synthesis the protein as per the command of active gene.

Depending upon the circumstances behavioural response shifts vary wisely. As the behaviour is controlled by the hormones, the genes which are modulating hormones synthesis must be switching off and on as per response from brain. Specific hormone for the specific task of behaviour is producd as per program under the command of brain. We have tried to establish a relationship between behaviour and genes so that a new study should carry out in the motive to control the gene activity by the mode of behaviour psychology.

Counselling psychology is very much practice in the field of academic, in the field of sports for motivating sportsman and for helping the one who is trying to come back after injury (Webster et al., 2008) or in the area of medical for strengthening the depress state of the patients suffering from chronic diseases like cancer (Watson et al.,1988; Sheard, T., & Maguire, P., 1999), diabetes (Snoek et al., 2002) or in any chronic diseases (Karademas et al., 2009) that has harassed the health as well as the mental stability of patients. Moreover, it is widely used in people who are handling life defeat mentality (Silbert et al., 1991). They are found to be very much effective in uplifting the level of psyche.

In psychology, human nature and motivation have been discussed very extensively. Freud believed that behind every human activity there is the instinctual drive that works as a motivating factor that bring upon types of human behaviour. Psychology is a science of behaviour that is observable. It also means an objective science that depends on the experimental and observable data. All human action and behaviour are the outcome of the physiological and neurological reaction in the human body. This fact also reveals that human behaviours are nothing more than the way man responses to stimuli that come from the environment.

Behaviourists accept determinism in their version of psychology. They deem that every human response can be predicted in relation to the type of stimulus that triggers mans responses. Some of our motives to act are biological, while others have personal and social origins. We are motivated to seek food, water, and sex, but our behaviour is also influenced by social approval, acceptance, the need to achieve, and the motivation to take or to avoid risks, to name a few (Morsella, Bargh, & Gollwitzer, 2009).

Furthermore, during motivation our body gene regulation work on activation of genes that is good in handling stress. And there are some genes that are responsible for the production of dopamine a motivation molecule, that provides the drive and focus you need to accomplish your tasks in the most productive way. This hormone is primarily involved with the attention span, focus and motivation. It is a neurohormone that is released by the hypothalamus. Lack of dopamine in the body is associated with symptoms like fatigue, lack of focus, difficulty in concentrating, forgetfulness, insomnia and lack of motivation.

When dopamine isnt regulated properly, it can contribute to a dysfunctional pursuit of good feelings, such as occurs in addictions, or lead to a hyperactive state like Attention Deficit/Hyperactivity Disorder (ADHD). These conditions are generally associated with an increased risk of early death, rather than longevity, but the latest study suggests that risk genes for certain problems in some environments may be beneficial in other situations.

In humans, dopamine neurotransmission is influenced by functional polymorphisms in the dopamine transporter (DAT-1) and catechol-Omethyl transferase (COMT) genes. The COMT and DAT-1 genes was found in the ventral striatum and lateral prefrontal cortex during reward anticipation and in thelateral prefrontal and orbitofrontal cortices as well as in the mid-brain at the time of reward delivery, with carriers of the DAT-1-9 repeat allele and COMT met/met allele exhibiting the highest activation, presumably reflecting functional change consequent to higher synaptic dopamine availability.

The origin of motivation can be felt as either internal as push motivation or external as pull motivation. Push motivation is depicted in terms of biological variables arising in a persons nervous system and mind psychological variables that represent attributes of a persons mind, such as psychological needs. A person has the capability to channelize its motivation and stress hormones concentration by the mode of imagination. And if a person thought is responsible for its hormone concentration, then the person thought or imagination may affect an individual gene regulation. And this gene regulation is a background of push motivation.

Pull motivation is understood in terms of environmental variables that describe external sources of motivation, like incentives or goals. Our internal sources of motivation interact with external sources to direct behaviour (Deckers, 2014). Moreover, it may happen that this external effort implants an idea in a person which allows creating a thought process rising to an imagination.

Furthermore, this imagination leads to affect the body serum metabolite concentration and signalling metabolite modulates the process of gene regulation and gene expression. Hence, it will lead to regulation to the activity of stress handling and risk handling genes (Yashin, et al., 2012). And this leads to the production of hormones such as dopamine, oxytocinetc that are responsible to manage the level of external motivation or push motivation. This system can be observed in the field of extensive sports like boxing and rugby, where coach try to motivate the energy and skills of the player by mentoring with either using sound modulation or by some moral thought related to winning or losing.

Our evolutionary history also explains aspects of motivated behaviour, and our individual personal histories shed light on how our lifelong experiences shape our motives and determine the utility of goals and incentives.

Physiological needs like hunger, thirst, sex or some desire on the basis needs are also the biological beginnings that eventually manifest themselves as a psychological drive in a persons subjective awareness. These biological events become psychological motives. It is important to distinguish the physiological need from the psychological drive it creates because only the later has motivational properties.

The drive theory of motivation tells us that physiological needs originate in our bodies. As our physiological system attempts to maintain health, it registers in our brain a psychological drive to satisfy a physiological craving and motivates us to bring the system from deficiency toward homeostasis (Reeve, 2018). Likewise, the person who motivates themselves for the personal fitness must be channelizing their serum hormones effect. This desire might be helping them to initiate a program of self-caring; a necessity in order to keep up with personal health. As people are not under control for good diet or healthy life style; personal motivation is necessary. The biological need turns into a psychological motive when the drive to satisfy it interferes with our normal functioning by increasing tension until the need is satisfied.

Behavioural feature in relation to social interaction has performed wonders in the field of medical science. Some aspects are visible through the lenses of science but some are the trades of invisible energy. Placebo effect is among that invisible behavioural energy which has stuns the eyes of many thinkers. As per the Stimulus substitution models posit that placebo responses are due to pairings of conditional and unconditional stimuli (Montgomery et al., 1997). This Condition is either created by people or may be a natural place. The placebo effect has a very vital consequence on the synthesis of metabolites in body and in functioning of hormonal glands. Placebo effect gives rise in endorphin release (Levine et al., 1978) and drop down the symptoms of anxiety (Sternbach et al., 1968.), classical conditioning (Wickramasekera et al., 1980), and response expectancy (Kirsch, et al., 1985; Kirsch et al., 1990.).

However, Montgomery and Kirsch (1996) described data that are hard to reconcile with the hypothesis that placebo responses are mediated by such global mechanisms as anxiety reduction or the release of endogenous opioids. It has been found that it can be used as a local anaesthetic.

Genetics states that, what we express as a character, whether its behaviour or phenotype it is just a pre-programmed stimulus of genes on its switching circumstances. And the circumstances could be behavioural or environmental. The change may arise sooner or later, depends on the degree of gene regulation.

On the other hand, the arising of any action or the way someone conduct them self in response to others action is judge during psychological practice. It has been observed that the change in mood, action and development of thought triggers the secretion of different metabolite, by different gland present in different parts of brain and body. The effect of any action could be seen all over the body, such as; at the time of anger the whole body share the heat arise from anger; at the stage of happiness we can feel comfort and energetic and at the stage of meditation we can feel peace. These kicks off of anger can take place by others behavioural activity but its onset initiates the production of adrenaline and noradrenaline cortisol, which anger are causing hormones. Similarly, the state of happiness is the result of production of endorphins, dopamine and serotonin. Likewise, the action of meditation kicks off the production of all good hormones required by the body to be at peace.

The effect of these hormones on whole body can only be seen if these hormones are well distributed in the body cell. Whenever any hormone enters into cell it creates a signalling response which moves from cell cytoplasm to the nucleus. And nucleus is the place where the key genetic material which codes for the behaviour of cell the structural unit of organism.

Psychology and metabolism are mutually related to each other. Any change in psych will trigger the synthesis of different hormones or metabolite or its responsible for the alteration in concentration of metabolite or hormones. And in normal condition of outer environment, social environment and diet intake, the physiological status of a person is found to be normal. Hence, the metabolite concentration is also balanced. As soon as there is any change in the environment (social/environmental) of a person, metabolite and hormonal response changes. Hence there are vital changes in person behaviour or in its health status. There is certain situation where organism has to behave against their natural character. This situation is either created by the social environment or unpredictably. Table 1 listed some of the real life situation and various responses of body metabolism

Moreover, there are situation which are either created or present naturally and are responsible for generating some rare characters in organism. As in a situation for survival some people develop very high spirit to stay alive and start working against their nature. They are found to handle stress condition with an attitude of solving it and bring out anything good as per the things available. This can be the situation of specific activation of stress handling genes by the mode of gene regulation (Yashin, et al., 2012). This regulation tends to modulate behaviour in an organism as presented in Table 2. Hence, such people are found to be having great surviving skills and a behaviour of handling tough situation.

The character whichis in phenotype form or specific social behaviour is actually a command program of the genes present in our DNA. The happening of any behaviour and expression is basically the activity of genes. Hence, learning, expression or behaving could be on and off of genes activity. This on and off of genes is understand by the terminology of gene regulationLikewise, the metabolite or hormones are actually functional protein which produces bytaking the referencefrom the coded information, by various genes in DNA of an organism. Furthermore, the behaviour of person is more likely influenced by the metabolite and hormones. Hencehuman behaviour is more likely to be as concentration of different biochemical or its just based on switching on or switching off of different genes responsible for different character which are control by production of functional protein. Hence, whenever there is activation of any gene there is activation of a specific function which contributes in any biochemical reaction throughout the body. There arenumerous biochemical reactions going on in the bodyeachactually channelize by the metabolic protein produce by the activation of genes of an organism. Apparently, the origin of basic behaviour characteris trigger by genes e.g.in infant we can observe some facial expression and actionInfants are not taught about behaviour, some of them are basically inherited by birthwhich are trigger by genes.

Moreover,if any human psychological disorder generated either by environmental or social stress are responsible for the alteration of functional protein such as hormones and metabolites. Functional protein is only produce by the activation of genes. In a nutshell genes are responsible for behaviour psychology butbehaviour psychology also holds the capacity to influence the activity of genes. Therefore, behaviour psychology at its best possible organised way may have the efficiency to govern and channelizes the activity of genes. Hence, after recognising the complete relation between psychology and genes by the connection of metabolism we can elaborate new area of study either in the field of genetic engineering or in the field of behaviour psychology.Acharangenetics(Acharan + genetics) word can be used to express the relation of behaviour psychology and genes. The wordAcharangeneticsis a compound word, form by combination of two words Acharan a Hindi origin word meaning behaviour and the second word is genetics which is the study of heredity.

Research Questions: The research questions are:

> Can we effect gene regulation by the mode of behaviour psychology?

> Can we use behaviour psychology as a genetic regulation tool?

> As genes activation affect the behaviour and create a person personality characters, can it happen that moulding someones character results in gene regulation?

Answers to the Question

The behaviour of a person is the expression of genes. The change in behaviour by the action of word may generate such hormones which leads to the expression of different genes in the individual which codes for such protein that either alter or generate new character in an individual. Hence, the transformation of human behaviour from a child to a mature person could be response of expression of genes by certain behavioural activities. A talk between two people regarding certain mutual adjustment in behaviour could be another example of gene expression of desired characters by using concept of mutual understanding of requirements. Hence, psychology can be used as a tool for expression of specific genetic traits. If social interaction and genes both affect metabolism, then they might be interacting each other. Metabolic pathway is a connective link in many biological processes therefore; it may happen that there might be a relation between genetics and behavioural psychology. If behaviour psychology can affect genes activity, then we can use it as a tool for expression of specific genetic traits. Any effect to a person during social interaction create certain level of change in its hormones or functional protein concentration lifting the mood or results in stress conditions.

*About the authors: Rajan Keshri, Harpreet Kaur and Dr Gursharan Singh Kainth, Guru Arjan Dev Institute of Development Studies

REFERENCES

Table 1: Hormone Impact on Behaviour and Body at Different Stress Situation.

Table 2: Some Examples of Hormones and Their Effects on Human Body and Behaviour.

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Acharangenetics: Behavior Psychology As Gene Regulation Tool - Analysis - Eurasia Review

The Dottirs are well renowned throughout the CrossFit world. With two female athletes that have won the Games twice (Annie and Katrin), and another athlete that has won the Worldwide Open three times (Sara Sigmundsdottir), they are a force to be reckoned with. Flick through the photos below for inspiration then read on to explore why they are so good.

Annie Thorisdottir, Katrin Davidsdottir, Sara Sigmundsdottir and Thuridur Helgadottir: four Icelandic ladies dominating the biggest Crossfit stages of all. However, they are not the only dottirs to watch at major events of the discipline, as there is a constant flow of elite sportswomen coming to Crossfit fame from the land of volcanoes, geysersand impressive athletic success stories. To every fan of Strongman, Crossfit, handball, basketball, and, more recently, after the European Championship of 2016, football, the ability of a country with a population of just 323,000 to select and train athletes who go on to feature among the worlds best is a cause for awe and admiration.

The question comes naturally: what lies behind these unlikely accomplishments? In this article, while focusing on Crossfit and Strongman, we set out to explore the different possible factors which contribute to Icelands important place in the world of sport.

It is often believed that the genetic set-up of the Nordic people explains their physical strength and mental toughness, two key ingredients for achievements in sport. However, as few to no studies have been carried out regarding this matter, it is difficult to determine the extent to which genetics offer Icelandic sportsmen and sportswomen a physical or psychological advantage over their competitors. The aforementioned argument is based on the infamous force and brutality of the Icelanders ancestors, the Vikings, who settled on the island in the year 874. Vikings were a tough people, who enjoyed strength training in the form of outdoor sports such as competitive stone lifting. This pastime and its adapted versions seem to have remained popular in Iceland throughout the ages, and could be regarded as part of the Vikings cultural legacy.

With cold weather, long hours of darkness, frequent volcanic eruptions and a rough terrain, life in Iceland is not easy. Before the emergence of modern entertainment, the options of spending ones free time were limited, a fact which may also explain the popularity of indoor sports among the Icelandic population.

However, the environment is an adversary and an ally of the Icelanders at the same time, as it also provides them with clean water and a cuisine based on local fish, vegetables and dairy products. Fully powered by geothermal and hydroelectric energy, Iceland is one of the least polluted countries in the world, which positively influences the quality of water and crops. Given the importance of a sportspersons diet as a factor determining athletic performance, the healthy food products available in Iceland may also be contributing to the achievements of Icelands Crossfit dottirs.

Besides endurance and mental toughness, another psychological trait strongly influenced by geographical and historical factors and also believed to have been inherited from the Vikings is hard work. The efforts related to regularly coping with natural disasters and harsh living conditions shaped the personality of the Icelandic people, who have learned to overcome difficulties and thrive in an unfriendly environment. Icelanders start working at an early age, encouraged by the countrys government, which organizes summer jobs for teenagers aged 13-15. It is usual for students to work part-time during their studies, while many adults have more than one job.

A second trait displayed by Icelandic Crossfitters and other athletes is ambition. If we were to refer to the Viking ancestors again, it is fair to say that they were no cowards lacking self-confidence.

Sport is very popular in Iceland in both its amateur and professional forms. From a young age, pupils are encouraged to actively engage in exercise, among others with the help ofSklahreysti, a competition between schools. The fitness culture in particular is very well-developed, and Crossfit occupies a central position. Icelanders of all ages are active in the discipline at various levels, inspired by the success of the countrys Crossfit superstars.

Boxes face constant demand, with classes at the famous boxCrossfit Reykjavikstarting every 20 or 30 minutes. Furthermore, there is intense competition, but also collaboration, between Icelandic boxes, as Helga Gudmundsdottir, the owner of Crossfit Hafnarfjrur mentions in ourinterviewwith her:We have connections to most of the boxes in Iceland. Iceland is a very small country and we are all starting to know one another. It is like a one big family. We are all happy to lend out gear for competitions or events. So its a community and all boxes are connected somehow.

Another example which illustrates the importance of sport in Iceland is the context in which Junior Nordic champion in Olympic WeightliftingFreyja Mist Olafsdottirdecided to take up Crossfit:on Icelands National Holiday, various sports were being showcased downtown. The Crossfit Reykjavk Regional and Games competitors represented Crossfit and they were doing stuff like pull ups, handstand push-ups and muscle ups, and I thought it looked so cool to be able to do all of those things so I signed up right away.

Besides Crossfit, another popular discipline promoting Icelandic sport nationally and internationally is Strongman. The country gave the world two four-time Strongest Men, Jon Pall Sigmarsson and Magnus Ver Magnusson, and is now home to Europes Strongest Man, Hafthor Julius Bjrnsson, also known in popular culture for his role in theGame of Thronesseries. Considering its ongoing popularity, Strongman seems to have established itself as a traditional Icelandic discipline. Furthermore, Strongmen and Crossfiters sometimes train together and assist one another in making progress, and it is likely that the renowned Strongman discipline plays a part in the achievements of Crossfit athletes from Iceland.

Now that we have looked at some possible answers to the question regarding Icelands achievements in international sport, it is time to turn our attention to a very visible pattern which has emerged in Crossfit, namely the domination of Icelandic ladies. While the sport is probably just as popular among the men of Iceland, also yielding significant results (Bjrgvin Karl Gumundsson came in 3rdat the 2015CrossFit Games), it is in the womens category that the country celebrates its biggest and most numerous successes. Why is it so?

To explain this, we must focus on the principle of gender equality, which has a long history in Iceland. Women are known to have enjoyed many rights and liberties in the times of the Vikings. Furthermore, female warriors known asshieldmaidensare often mentioned in Scandinavian folklore and mythology, leading to the assumption that Viking women accompanied the men on the battlefront. In 1980, Iceland was the first country to democratically elect a woman as its head of state, while in March 2017 it celebrated Womens Day by becoming the first to require gender pay equality. It is therefore no surprise that the island constantly tops the ranking in theGlobal Gender Gap Report.

When it comes to sport in general and Crossfit in particular, this is reflected in the general attitude of Icelanders towards what is generally considered appropriate or desirable for women to do or look like. There is nothing unusual about Icelandic women taking up Crossfit, and it may well be that they do so without fear of being judged or body-shamed. In turn, together with the previously mentioned physical and psychological attributes, a large number of active female Crossfitters leads to a higher chance for the country to produce top sportswomen. Of course, the example set by Annie Thorisdottir and the others plays an important role as well.

Combining sport with social, cultural and historical facts or even genetic backgrounds, the question of explaining a countrys domination in a certain discipline is fascinating and puzzling at the same time. Although it is impossible to determine the accuracy of the answers and despite the fact that the matter usually remains unresolved, the feats achieved by a nations athletes in a certain discipline, such as those of small but mighty Icelands dottirs in Crossfit, are sure to inspire and motivate current and future generations of sports enthusiasts worldwide.

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18 Awesome Action Shots of the Icelandic Dottirs (and what makes them so good at CrossFit?) - BOXROX

Adrianna and Ashley Tousignant celebrate their pregnancy in a field of sunflowers. Their baby boy was born June 19.

After an exhausting four hours of pushing, Adrianna Tousignant looked down. In her arms was a 9-pound, 1-ounce baby boyit was one of the greatest moments of her entire life, she said.

Even better, she said, was watching her wife, Ashley Tousignant, hold their son, Henry.

Adrianna, 31, and Ashley, 32, fell in love while bartending at Gators Dockside in Gainesville six years ago. Nearly two years later, they were married and immediately began working on having a child. It took them three years to get pregnant.

Same-sex couples have two options for having children: adoption or assisted reproductive technology, which includes methods of conception, like in vitro fertilization, traditionally used to treat infertility. This technology allows for same-sex couples to obtain either a sperm or egg donation and have a child that shares genetics with one parent. Two men would also need a surrogate, a woman who carries and births the child for the couple.

According to Marla Neufeld, a Florida surrogacy attorney, there are no laws in the state preventing same-sex couples from using assisted reproductive techonology to have a child. However, same-sex couples worry about potential future legal issues and social stereotypes when going through the process.

The non-biological parent had to second parent adopt to officially have parental rights prior to 2015, when the supreme court declared same-sex marriage legalin all 50 U.S. states, Neufeld said. Second-parent adoption is a two-month process that involves a petition, finger-printing, a background check and a home-study under Floridas adoption laws.

Now, parents can avoid this process, if married, because a married couple has presumed parentage under Florida law.

However, like many other LGBTQ+ couples, Adrianna and Ashley said they fear the same-sex marriage law will one day be reversed. On June 12, the Trump administration reversed Obama-era health care protections for transgender people and redefined sex discrimination as applying to females and males. The protections do not include discrimination based on sexual identity or sexual orientation.

For extra security, Ashley, who did not carry the baby, is considering adopting their child.

Neufeld said she recommends that the parents do a stepparent adoption after the baby is born in case laws change, even though they're both on the birth certificate. Over the course of a month, the couple would file an adoption petition, attend an adoption hearing and attain a stepparent judgment. A court order is a stronger protection than a birth certificate, which is only a presumption of parentage, Neufeld added.

Ashley and Adrianna said they first began their journey of having a child with intrauterine insemination, a treatment where a sperm is placed inside a woman's uterus to initiate fertilization. To fertilize, the sperm needs to reach the actual egg on its own.

This didnt work.

Adrianna, who volunteered to carry the baby, then tried to medically increase her chances of getting pregnant by having endometriosis surgery. Endometriosis is a complication with the tissue that normally grows on the inside lining of the uterus. In surgery, the doctor removes the tissue, which then increases a womans chance of getting pregnant.

The surgery also didnt lead to a pregnancy, so they decided to switch to IVF, a process where the egg is fertilized with sperm outside of the body and transferred to the uterus.

Finally, three years later, they were pregnant.

Without knowing if you have fertility issues, it's kind of a crapshoot, Adrianna said.

She said they carefully decided who would be the sperm donor because they wanted to make sure the baby also had Ashleys characteristicsher dark brown straight hair and average height.

Ashley said it's a different experience for the partner who is not the one giving birth. When going to doctors appointments, she said, staff would assume she was a family member and not the other parent. She even said a doctor completely ignored her once.

You still feel like you have to kind of fight for your rights, Ashley said. Especially from a female standpoint. Even though you're not the one that's actually doing the pushing and going through everything, you're still an important factor, and should be treated just the same as a dad.

Ashley said they had a great delivery experience together. However, dealing with paperwork after birth was tricky. When applying for their son for a social security number, the representative initially only took down Adriannas number and had to return to the hospital room for Ashleys after the representative realized their mistake.

Being the partner, it was a different experience, Ashley said. Probably not as pleasant I think as others might experience or a heterosexual couple.

Both Ashley and Adrianna said they worry about the current political climate and feel they have to continue fighting for their rights. In January, Tennessee Gov. Bill Lee signed a bill which allows adoption agencies to deny a couple the opportunity to adopt based on religious or moral objections. The couple said they worry something similar will happen in Florida in the future.

Its just like a tornado, that you don't know where it's going to hit, or how destructive it could potentially be, Adrianna said.

However, there are positives too, the couple said. The U.S. Supreme Court outlawed discrimination against the LGBTQ+ community in the workplace on June 15.

Adrianna said she believes times are changing. Hopefully for the better, she added. The couple plans to have more children and just bought a house in Fort White together. She said Henry was definitely worth the wait.

The couple wants Henry to grow up knowing it's OK to be whoever he wants to be. Adrianna said the most important thing a child needs is support and love.

Love makes a family, Adrianna said.

Contact Emma at [emailprotected]ligator.org. Follow her on Twitter @emma_V_bautista.

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What its like for a same-sex couple to have a baby through assisted reproductive technology - The Independent Florida Alligator

Christine Stanley, Ph.D., Chief Director of Clinical Genomics at Variantyx

The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis.

Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can be associated with several diseases and each disease can be associated with dozens of clinical symptoms or more. It was believed that five percent or less of the human population carry variants involved in genetic diseases. But a recent study in the Annals of Internal Medicine, now suggests the number of people with variants linked to genetic diseases is closer to 20 percent. Many other factors may determine whether an individual actually develops a disorder, but these numbers suggest the acceptance of a new approach that provides the most useful diagnostic data from a single test thats easier on the patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments.

Here is an important reason. Parents with children suspected of having a genetic disease routinely face a diagnostic odyssey that typically lasts five to seven years and entails seeing an average of seven different physicians. Its an odyssey that comes with an average cost of diagnosis reaching $21,099, more than seven times the cost of a single whole-genome sequencing test.

Historically, genetic testing has been really disjointed. Tests that were developed 10 to 15 years ago are still being run today by laboratories. These tests target extremely specific areas for an exceedingly small number of changes that cause a certain disease. It is like looking under a lamp post. And an individual, who is suspected of having the disease, will be tested for one particular variant or a small number of variants. It is an approach that is lacking in quick, definitive, and accurate results. Unless the tested area accounted for the majority of the disease-causing variants, it then forces the ordering of more tests to try to find other causes of the disease, either within that same gene or within other genes. This is happening sequentially, so the patient keeps receiving negative results, and then additional tests are ordered and the merry-go-round can continue for years. It cost families financially and emotionally. Delaying the time to diagnosis can also close the effective treatment window in cases where early treatment is important for a good prognosis.

Ordering a single whole-genome sequencing (WGS) test right off the bat replaces almost all of those long, cumbersome, and costly processes. It all but eliminates having to endure multiple genetic tests because a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis. More importantly, if the test results were negative and then a new gene associated with the patients disease is reported the next day, and that patient has a variant in that gene, a clinician can make that connection by reanalyzing the data rather than by bringing the patient back in for a new sample. In that way, genomic testing has really revolutionized the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis.

Whole-genome sequencing does not require the mechanical step of isolating genes first. It enables the identification of different types of variants that labs do not typically see when one isolates genes. It also enables the use of sophisticated algorithms applied via software to allow for the ranking of variants in a way that pulls variants that are known to cause the disease to the top of the list for examination. Variants can also be ranked by looking at the severity of the effect of the variant on genes that most closely match the patients clinical symptoms. Those results are parsed based on the known inheritance patterns of these genes. Patients can be looked at through both of those lenses at the same timethe severity of the changes that are identified, and the changes that match with the clinical symptoms of the patient.

Whole-genome testing will soon become the first line of defense, rather than a last resort for families or individuals seeking clarity on genetic diseases because of its ability to incorporate sophisticated bioinformatics and data interpretation. It is a faster route for the proper diagnosis and treatment for both early-onset diseases like epilepsy and intellectual disabilities, as well as late-onset disorders like ataxia and ALS. It can be used to diagnose almost any genetic disorder spanning such areas as neurology, endocrinology, nephrology, hearing and vision loss, blood disorders like thalassemia, muscular dystrophy, etc. While insurance reimbursement can be challenging today, the insurance payers will come around, as they have always done in the past, because this test saves time, money, and supports better outcomes for patients.

About Christine Stanley, Ph.D.

Christine Stanley, Ph.D., is the Chief Director of Clinical Genomics for Variantyx, a provider of highly specialized genetic testing to clinicians and their patients. Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory.

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Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases - HIT Consultant

Predictive Genetic Testing and Consumer/Wellness Genomics Market: Snapshot

Genetic testing comprises examination of ones DNA. The term DNA refers to the chemical database that is responsible for conveying the instructions for functions that need to be performed by the body. Genetic testing is capable of revealing changes or mutations in the genes of living beings, which might result in any kind of disease or illness in the body.

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Predictive genetic testingrefers to the utilization of genetic testing methods in an asymptomatic individual to make a prediction about risk of contacting particular disease in future. These tests are regarded as representation of emerging class of medical tests, which differ in fundamental ways from the usual diagnostic tests.

The global predictive genetic testing and consumer/wellness genomics marketis likely to gather momentum owing to the benefits offered by predictive genetic testing.

The benefits of predictive genetic testing are

The global predictive genetic testing and consumer/wellness genomics marketis influenced by reducing cost of genetic sequencing and technological advancement in the field of genetics. North America is expected to emerge as a prominent region for the global predictive genetic testing and consumer/wellness genomics market in years to come due to high adoption rates of latest technologies in all fields.

Over centauries human DNA has undergone tremendous alteration due to evolutionary and lifestyle changes. They have led to both, advantages and disadvantages over the years. Some have given the mankind a deserving edge over other creatures while the others have led to disorders and diseases. Predictive genetic testing and consumer/wellness genomics market thrives on the growing demand for understanding the lineage of a certain gene pool to identify disorders that could manifest in the later or early stage of a human life. The surging demand for understanding the family history or studying the nature of certain diseases has given the global market for predictive genetic testing and consumer/wellness genomics market adequate fodder for growth in the past few years.

This new class of medical tests are aimed at reducing the risk of morbidity and mortality amongst consumers. The thorough surveillance and screening of a certain gene pool can allow an individual to avoid conditions that disrupt normal existence through preventive measures. The clinical utility of these tests remains unassessed. Therefore, increasing research and development by pharmaceutical companies to develop new drugs by understanding diseases and disorders is expected to favor market growth.

Unlike conventional diagnostic testing, predictive genetic testing identifies the risk associated with potential conditions. In certain cases it is also capable of stating when the disease may appear and the how severe will it be. Thus, this form of testing is expected to allow consumers to take up wellness measurements well in time to lead a life of normalcy, characterized by good health.

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Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Overview

Predictive genetic testing are used to identify gene mutations pertaining to the disorders that surface at a considerably later stage in life after birth. These tests are particularly beneficial for people from a family with a history of genetic disorder, although they themselves show no symptoms of the disorder at the time of testing. Genetic testing promises to revolutionize the healthcare sector, providing crucial diagnostic details related to diverse verticals such as heart disease, autism, and cancer. As the healthcare sector touches new peaks, the global predictive genetic testing and consumer/wellness genomics market is projected to expand at a healthy growth rate during the forecast period of 2017 to 2025.

This report on the global market for predictive genetic testing and consumer/wellness genomics analyzes all the important factors that may influence the demand in the near future and forecasts the condition of the market until 2025. It has been created using proven research methodologies such as SWOT analysis and Porters five forces. One of the key aspect of the report is the section on company profiles, wherein several leading players have been estimated for their market share and analyzed for their geographical presence, product portfolio, and recent strategic developments such as mergers, acquisitions, and collaborations.

The global predictive genetic testing and consumer/wellness genomics market, on the basis of test type, can be segmented into predictive testing, consumer genomics, and wellness genetics. The segment of predictive testing can be sub-segmented into genetic susceptibility test, predictive diagnostics, and population screening programs, whereas the segment of wellness genetics can be further divided into nutria genetics, skin and metabolism genetics, and others.

By application, the market can be segmented into breast and ovarian cancer screening, cardiovascular screening, diabetic screening and monitoring, colon cancer screening, Parkinsons or Alzheimers disease, urologic screening or prostate cancer screening, orthopedic and musculoskeletal screening, and other cancer screening. Geographically, the report studies the opportunities available in regions such as Asia Pacific, Europe, North America, and the Middle East and Africa.

Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Trends and Opportunities

Increasing number of novel partnership models, rapidly decreasing cost of genetic sequencing, and introduction of fragmented point-solutions across the genomics value chain as well as technological advancements in cloud computing and data integration are some of the key factors driving the market. On the other hand, the absence of well-defined regulatory framework, low adoption rate, and ethical concerns regarding the implementation, are expected to hinder the growth rate during the forecast period. Each of these factors have been analyzed in the report and their respective impacts have been anticipated.

Currently, the segment of predictive genetic cardiovascular screening accounts for the maximum demand, and increased investments in the field is expected to maintain it as most lucrative segment. On the other hand, more than 70 companies are currently engaged in nutrigenomics, which is expected to further expand the market.

Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Regional Outlook

Owing to robust healthcare infrastructure, prevalence of cardiovascular diseases, and high adoptability rate of new technology makes North America the most lucrative region, with most of the demand coming from the country of the U.S. and Canada. Several U.S. companies hold patents, which further extends the outreach of the market in the region of North America.

Companies mentioned in the research report

23andMe, Inc, BGI, Genesis Genetics, Illumina, Inc, Myriad Genetics, Inc, Pathway Genomics, Color Genomics Inc., and ARUP Laboratories are some of the key companies currently operating in global predictive genetic testing and consumer/wellness genomics market. Various forms of strategic partnerships with operating company and smaller vendors with novel ideas helps these leading players maintain their position in the market.

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Predictive Genetic Testing and Consumer/Wellness Genomics Market Analysis of Key Players 2025 - Cole of Duty

Molecular diagnostics market is projected to record significant gains over the forthcoming timeframe. Molecular diagnostics is one of the most transformative and dynamic areas of diagnostics, leading to various advancements in research and treatment which are revolutionizing healthcare throughout a wide array of medical conditions and diseases.

The term molecular diagnostics is a class of diagnostic tests that evaluate health of a person literally at a molecular level, measuring and detecting specific genetic sequences in RNA or DNA or the proteins they express.

Recent advances in molecular diagnostics are starting to shift from basic research to clinical reality. Some of the popular as well as cost-efficient diagnostic tests in medicine are based on quantification of a particular protein and are often used in hospitals globally.

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Patients as well as families generally rely on molecular diagnoses for disease prognosis, family planning and health-care management, and they get benefits when an answer is found for the afflicting condition.

Based on the application landscape, the market is segmented into oncology testing, blood screening, genetic testing, and infectious disease. Among these, the genetic testing segment is projected to record a CAGR of around 11% between 2019 to 2020 owing to the increasing advancements in diagnostic tools enabling higher sensitivity and specificity.

Furthermore, genetic testing has grown from a niche field for rare disorders to a wide scope of applications for personal use and complex disease. Applications of clinical genetic testing range from medical disciplines, which includes carrier and diagnostic testing for inherited disorders; pharmacogenetic testing to guide individual drug selection, dosage and response; to screening of newborn for highly penetrant disorders; and pre-symptomatic and predictive testing for adult-onset and complex disorders.

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With respect to technology, the market is bifurcated into sequencing, isothermal amplification, PCR, chips & microarrays, in situ hybridization, mass spectrometry, and others. Among these, the in situ hybridization (ISH) segment is slated to record a market valuation of more than $3 billion by 2026, owing to the technological advancements that are allowing low cost gene mapping and diagnostics.

ISH is a technique allowing localization of a particular segment of nucleic acid within a histologic section. The fundamental basis of ISH is that nucleic acids if preserved effectively within a histologic specimen, could be discovered through the application of a corresponding strand of nucleic acid to which a reporter molecule is generally attached. The technique is specifically useful in neuroscience.

Other applications of ISH are microbiology, pathology, developmental biology, karyotyping, and phylogenetic analysis.

From a regional frame of reference, Latin America molecular diagnostics market is expected to reach a valuation of more than $1 billion by 2026, which is attributable to the rising awareness about cost-effective molecular diagnostics options among general population.

Molecular diagnostics has become an important part of disease management and therapy, used in applications areas like drug regimen selection, detection of predisposition to disease, patient stratification, toxicity avoidance, and therapeutic monitoring. This growing integrality of the industry is poised to help it grow significantly in coming years.

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Molecular Diagnostics Market Detailed Analysis of Current Industry Figures with Forecasts Growth By 2025 - 3rd Watch News

Austin was three years old and Max was a newborn when their mother, Jenn McNary, learned they had a rare genetic condition called Duchenne muscular dystrophy. The doctor painted a grim picture: Her boys would stop walking by age 12 or 13 and, shortly thereafter, they would require nighttime ventilation. They would each need a tracheotomy, a feeding tube, or both by their late teens. Death would come a few years later.

It hasnt worked out that way, thanks to two new drugs that became available after the boys 2002 diagnosis. Exondys 51, a medicine that targets their genetic mutation, slows the diseases progression, and Emflaza, a corticosteroid, mitigates some of its symptoms. Thanks to these treatments, Austin now attends college and interns at a biotech company. Max attends his local high school in Newton, Massachusetts. Both are able to get around in wheelchairs, and neither needs ventilation. McNary just rented an apartment for her boys because they can function on their own with the help of an aide.

By all accounts, the drugs have been transformative, McNary said. But, she added, her boys arent going to be cured, and extending and improving their life for an unknown period of time comes at a high price. Emflaza came onto the market in 2017 at an annual cost of $65,000. Exondys 51 appeared in 2016 at $748,500. Neither of the drugs will help the young men walk again and, in the eyes of some U.S. health economists, the drugs are not worth the price.

Thats why McNary hates the quality-adjusted life year (QALY, pronounced qua-lee), an economic calculation that attempts to quantify the value of a medical intervention, based in part on the quality of life it bestows on recipients.

First developed by U.S. economists in the late 1960s and early 1970s, variations of the QALY have been used for years by governments around the world to help determine what treatments citizens can obtain under public health care. In Americas free-market health care system, however, QALY calculations have largely been avoided. As McNary and others like her are finding out, thats starting to change.

As policymakers and insurance companies scramble to get a handle on skyrocketing health care costs, they are promoting the idea of paying for value. In this view, drugs designated as higher-value should be prioritized over lower-value treatments. But this raises a thorny question: Who gets to define value? Health economists and insurance companies who seek to use limited health care dollars judiciously? Or patients, parents, and doctors who want to receive the best health care for their situation?

Because the quality-adjusted life year threatens her sons ability to get the medicine they need, McNary is clear about her answer. To me, the QALY is a measurement that says that keeping my sons alive by providing incremental benefit but not totally curing them is never going to be valuable, McNary said. Just mull that around in your head if you are less than perfect, you are worth less money.

In QALY math, a year of perfect health is equal to 1; death equates to 0. The value of other health states is derived from surveys of patients, caregivers, or the general public. Paralysis might be valued at .35, for example, and mild Alzheimers disease at .52, depending on the survey. Those numbers can then be plugged into a formula that allows the relative cost-effectiveness of treatments to be compared to identify the best buys.

Economists developed the QALY concept more than 40 years ago to address a fundamental question: Where should we spend whose money to undertake what programs to save which lives with what probability? Richard J. Zeckhauser and Donald Shepard asked in a 1976 article describing the basic QALY formula. The next year, as U.S. health care spending topped $120 billion, Harvard health policy professor Milton C. Weinstein and his colleague, cardiologist William B. Stason, sounded an alarm bell. It is now almost universally believed that the resources available to meet the demands for health care are limited, they wrote in the New England Journal of Medicine. We, as a nation, will have to think very carefully about how to allocate the resources we are willing to make available for health care.

Their article cited by other authors more than a thousand times in the past four decades pointed out that resources were already being allocated by millions of individual decisions: hospitals rationing beds where they didnt have room for all patients, for example, and insurers agreeing to pay for some tests and treatments but not for others. Such decisions, they argued, were often inconsistent with the societal objective of deriving the maximum health benefits from the dollars spent, an objective that could be achieved by putting the QALY to work.

In the intervening decades, some countries the United Kingdom, the Netherlands, and Sweden, for example have embraced QALY-based evaluations. In the U.K., cost-effectiveness studies are used, in part, to determine which therapies the National Health Service will provide for residents. The publicly-funded health system does not cover Orkambi, the first cystic fibrosis treatment that targets the cause of the disease, for example, because its cost-per-QALY far exceeds the U.K. cost-effectiveness threshold.

In the United States, however, QALY-based assessments have not gained traction until recently. Perhaps the general reason is that we as patients and our providers dont want to be limited in the treatment options available, said Louis P. Garrison Jr., an economist in the Pharmaceutical Outcomes Research and Policy Program at the University of Washington.

In fact, QALY-based cost-effectiveness reviews are so controversial that the federal government has repeatedly quashed their use. In 1992, the Department of Health and Human Services rejected Oregons attempt to use QALY-based cost-effectiveness assessments to determine what services its Medicaid program would cover. In 2010, as part of the Patient Protection and Affordable Care Act, Congress prohibited the use of QALYs by the Medicare program. It also banned the federal Patient-Centered Outcomes Research Institute from using QALY thresholds in its assessments of comparative treatments.

But more than half of U.S. residents are covered by private insurance companies, which are not prohibited from using QALY-based assessments to decide which medicines they will cover for their members. Traditionally, however, private insurers have generally not used QALYs explicitly in their decisions about what tests and treatments they will pay for, according to a recent report by the National Council on Disability. Instead, when major U.S. insurers decide to limit access to a given medication, they usually cite insufficient data to justify its use in a given situation.

Indeed, until recently, U.S. insurers did not have a source for QALY-based cost-effectiveness reports. That began to change in 2014, when the Institute for Clinical and Economic Review, a nonprofit research organization based in Boston, turned its attention to high-cost drugs. Founded in 2006 as a research project based at Harvard Medical School, ICER initially issued reports on broad topics such as obesity management and palliative care. But when Sovaldi, a drug for deadly hepatitis C, came on the market at the then-shocking price of $84,000 for a 12-week course of treatment, ICER kicked into action. Despite the high price, its assessment found that Sovaldi is cost-effective for some patients. Insurers took notice.

Since then, the organization has been churning out several drug-assessment reports each year. Each report includes its opinion of how much the drug is worth; drugs priced higher than that are deemed not cost-effective. ICER has no authority over anyone, but its reports have become popular reading for U.S. insurers. If there is a drug of note being approved by the FDA, theres also likely going to be an ICER assessment of that drug that can factor into their decision-making, said David Whitrap, the research organizations vice president of communications and outreach.

U.S. health care spending has risen dramatically since Weinstein and Stason expressed concern in the mid-1970s. In 2016, the U.S. spent nearly 18 percent of its gross domestic product on health care, far outstripping the average of 11 percent for 10 other high-income nations. High prices for prescription drugs is one reason. Were seeing price tags now of $1 million, $2 million, said Seema Verma, administrator for the federal Centers for Medicare and Medicaid Services, at a conference recently. Thats completely unsustainable for the system.

Thats why Peter Neumann, director of the Center for the Evaluation of Value and Risk in Health at Tufts Medical Center, said cost-effectiveness analyses are needed more than ever. But there are many reasons for the resistance, Neumann and his co-authors wrote in the Journal of the American Medical Association, including an inclination on the part of many individuals in the United States to minimize the underlying problem of resource scarcity and the consequent need to explicitly ration care.

Further, Ari Neeman, a disability rights activist and consultant to Partnership to Improve Patient Care, a coalition of advocacy groups, said the idea that two health conditions can be numerically compared to one another is simply wrong. Proponents of the QALY will say it is this mathematically perfect measure that gives us a superpower ability to compare depression drugs to cystic fibrosis drugs to cancer drugs even though all of those drugs do different things because it lets you translate them back to this common measure, he said. Our concern is that when you engage in that process of translation, you lose some significant nuance in terms of the amount of benefit thats being delivered.

The Partnership argues the QALY calculation is flawed because it assumes quality of life can be captured by a certain number, despite the fact that different surveys arrive at different numbers. For example, a 2006 quality-of-life survey in the U.S. assigns blindness/low vision as .69 on the 0-to-1 scale, while a 2011 survey in the U.K. gives blindness/low vision a score of .78.

Beyond the methodological issues, Neeman said, there are all kinds of ethical problems with it. People with disabilities and chronic medical conditions may value a treatment that offers an incremental improvement in the quality or length of their lives, even though the QALYs gained are less than those for a treatment that prevents the loss of perfect health.

Former U.S. Representative Tony Coelho, a Democrat from California and a primary author of the Americans with Disabilities Act, is the Partnerships chairman. I worry that more focus is being given to what is most cost-effective for the average patient than creating a system that works for each individual patient, he wrote in 2018. The medication I take for epilepsy isnt high value for every patient. But its the only one that works for me.

Thats why, Neeman said, cost-effectiveness analyses must consider the fact that not all patients respond the same way to a drug. Some patients need drugs that arent deemed cost-effective for the general population. Its important to account for that, he said. Otherwise were giving insurers a tool to deny care to people who need it.

When an insurer decides to cover a specific drug, that decision affects everybody who pays into the insurance pool. Michael Sherman, chief medical officer for the insurer Harvard Pilgrim Health Care, uses the example of a gene therapy that costs $1 million to treat a child who will die without it. Under the ACA, families will hit their out-of-pocket maximum at about $16,000, and many health plans have out-of-pocket maximums far below that. The rest of that million dollars is going to be paid by everyone else thats the way it works in insurance, he said. When insurers see that kind of unanticipated budget impact, they raise premiums or out-of-pocket cost-sharing for everyone.

Like other proponents of the QALY, Neumann sees it as an imperfect but useful tool. Any single number is never going to capture everything, he said.

The problem is, if youre not going to use QALYs, what are you going to use?

Thats an urgent question, particularly now when there is a huge pipeline for rare-disease therapies, often called orphan drugs. By 2024, orphan drug sales are expected to reach $242 billion.

In the U.S., a rare disease is defined as one that affects fewer than 200,000 people. While these conditions are individually rare, in the aggregate, an estimated 25 to 30 million Americans thats about one in 10 live with a rare disease. Most rare diseases affect children, and many are fatal or disabling.

Historically, drugmakers spent little effort developing treatments for rare diseases, but that changed with the passage of the Orphan Drug Act of 1983, which provides tax credits and a seven-year marketing exclusivity to companies that develop rare-disease treatments. Hundreds of such treatments have won FDA approval in recent years, with more than 560 medicines in the works.

Those treatments are generally expensive. On average, the per-patient cost for orphan drugs in the U.S. is almost 4.5 times more than for non-orphan drugs.

In the two decades ending in 2017, the average annual cost for orphan drugs was $123,543, based on the price at the time the drug launched, compared to $4,961 for traditional drugs. For Duchenne alone, more than 30 orphan therapies are in development. None of them are going to cure patients, McNary said. But she hopes new treatments, generally used in combination, will help her sons live longer, healthier lives and completely change the disease trajectory for younger patients whose disease has not yet progressed as far.

The barrier she worries about is cost-effectiveness analysis. In August, the Institute for Clinical and Economic Review published its assessment of treatments for Duchenne, which affects about 400 to 600 boys born in the U.S. each year. Emflaza, the corticosteroid, appears to be as good as or better than prednisone, another corticosteroid approved to treat the disease, but it would need a price cut of at least 73 percent to be considered cost-effective.

Exondys 51 approved by the FDA for about 13 percent of the Duchenne population got a worse review. In the clinical trials used to seek FDA approval, no clinical benefit, including motor function improvement, was demonstrated. (The FDA approved the drug because some of the patients treated with Exondys 51 had a slight increase in dystrophin levels in skeletal muscle.) In light of that, Exondys 51 was not deemed cost-effective at any price.

But Jenn McNary said the drug works for her sons. Austin, who was not eligible for the Exondys 51 clinical trial, stopped walking at age 10. Max got in the trial and started taking the drug at age 9.They have the same mutation, they have been raised by the same mother, so one would expect they would progress similarly, she said. But Max walked until he was 17.

Austin was already in a wheelchair when, at age 15, he started taking Exondys 51. He regained some upper-body strength that changed his life, according to his mother. Hes able to use a urinal on his own, which makes is possible for him to have a job and to go to college without an aide, she said.

The Medicaid program in Massachusetts, where the McNarys live, wont pay for Maxs Duchenne therapies. For the time-being, the drugmakers are giving him the drugs free through a patient-assistance program. Austin, because hes enrolled in college, is eligible for student coverage through Blue Cross Blue Shield of Massachusetts. The insurer, by policy, does not cover Exondys 51 for patients who can no longer walk. His mother appeals the insurance denial. Every six months, she sends a video of Austin in action, along with a letter from his doctor and so far, his medicines have been covered.

The payers made their coverage policies before the quality-adjusted life year analysis was published. Now, insurers who have been covering the Duchenne treatments have an independent analysis with which to rethink that decision.

For now, there is one thing that QALY supporters and critics agree on. Very promising drugs are coming, and theyre going to be very expensive, said Neumann, the health economist at Tufts. Increasingly, the QALY appears poised to influence how American health care money is spent.

Lola Butcher is a health care business and policy writer based in Missouri. Follow her on Twitter @LolaButcher

This article was originally published on Undark and has been republished here with permission. Undark can be found on Twitter @undarkmag

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What's a life worth in dollars and cents? Should that influence who gets treated for expensive disease treatments? - Genetic Literacy Project

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, Inc., a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) has approved Phesgo, a fixed-dose combination (FDC) of Perjeta (pertuzumab) and Herceptin (trastuzumab) with hyaluronidase, administered by subcutaneous (SC, under the skin) injection in combination with intravenous (IV) chemotherapy, for the treatment of early and metastatic HER2-positive breast cancer. This is the first time that Genentech has combined two monoclonal antibodies that can be administered by a single SC injection.

The FDA approval of Phesgo reflects our commitment to improving outcomes for the many people living with HER2-positive breast cancer, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. Phesgo offers a treatment administration that supports the needs and preferences of individual patients, and helps to meet the increasing demand across the healthcare system for faster and more flexible treatment options.

Phesgo is available in one single-dose vial. Administration can take approximately eight minutes for the initial loading dose and approximately five minutes for each subsequent maintenance dose. This is compared to approximately 150 minutes for infusion of a loading dose of Perjeta and Herceptin using the standard IV formulations, and between 60-150 minutes for subsequent maintenance infusions of the two medicines. Phesgo can be administered by a healthcare professional in a treatment center or at a patients home.

The approval is based on results from the pivotal Phase III FeDeriCa study, which met its primary endpoint with Phesgo showing non-inferior levels of Perjeta in the blood during a given dosing interval (Ctrough) when compared to IV administration of Perjeta. The safety profile of Phesgo with chemotherapy was comparable to IV administration of Perjeta plus Herceptin and chemotherapy, and no new safety signals were identified, including no meaningful difference in cardiac toxicity. The most common adverse events in both arms were alopecia, nausea, diarrhea and anemia.

The Phase II PHranceSCa study showed that 85% (136/160) of people receiving treatment for HER2-positive breast cancer preferred treatment under the skin to IV administration due to less time in the clinic and more comfortable treatment administration.

For those who qualify, Genentech will offer patient assistance programs for people prescribed Phesgo by their doctor through Genentech Access Solutions. Please contact Genentech Access Solutions at (866) 422-2377 or visit http://www.Genentech-Access.com for more information.

About the FeDeriCa study

FeDeriCa is an international, multi-center, two-arm, randomized, open-label, Phase III study evaluating the pharmacokinetics, efficacy, and safety of SC injection of Phesgo in combination with chemotherapy, compared with standard IV infusion of Perjeta and Herceptin in combination with chemotherapy, in 500 people with HER2-positive EBC who are being treated in the neoadjuvant (before surgery) and adjuvant (after surgery) settings. The primary endpoint of the study is minimum levels of Perjeta in the blood during a given dosing interval (Ctrough). Secondary endpoints include safety; minimum levels of Herceptin in the blood during a given dosing interval (Ctrough); and total pathological complete response, meaning there is no tumor tissue detectable in the tissue removed at the time of surgery. The safety profile of Phesgo was comparable with that of Perjeta and Herceptin administered intravenously.

Data from the FeDeriCa study were presented at the San Antonio Breast Cancer Symposium in December 2019. The FeDeriCa study met its primary endpoint of non-inferior levels of Perjeta in the blood. The geometric mean ratio (GMR; a type of average used when assessing pharmacokinetics) for the primary endpoint was 1.22 (90% CI: 1.14 to 1.31), with the lower limit of the 90% CI of the GMR=1.140.80 (the pre-specified non-inferiority margin). A secondary endpoint of non-inferior levels of Herceptin was also met, with blood concentrations for people receiving the fixed-dose combination non-inferior to those receiving IV Herceptin (GMR=1.33 [90% CI: 1.24 to 1.43]; lower limit of 90% CI of GMR=1.240.80). A non-inferiority endpoint was chosen for the study to ensure that people were receiving sufficient dosing with Perjeta and Herceptin as compared to the established IV doses at the same treatment intervals.

About the PHranceSCa study

PHranceSCa is a randomized, multi-center, multinational, open-label, cross-over Phase II study evaluating patient preference for and satisfaction with subcutaneous (SC) administration of Phesgo. All patients completed neoadjuvant treatment with Perjeta, Herceptin and chemotherapy and had surgery before randomization. The primary endpoint of the study is the percentage of participants who indicate that they prefer treatment with Phesgo compared to the standard intravenous (IV) formulations of Perjeta and Herceptin. Secondary endpoints include participant-reported satisfaction and health-related quality of life outcomes; healthcare professionals' perceptions of time and resource use and convenience compared with IV formulations; as well as the safety and efficacy of each study regimen.

About HER2-positive breast cancer

Breast cancer is one of the most common cancers among women worldwide. According to the American Cancer Society, close to 280,000 people in the United States will be diagnosed with breast cancer, and more than 42,000 will die from the disease in 2020. Breast cancer is not one, but many diseases based on the biology of each tumor. In HER2-positive breast cancer, there is excess HER2 protein on the surface of tumor cells. Approximately 15-20% of breast cancers are HER2-positive based on the result of a diagnostic test.

About Phesgo

Phesgo (subcutaneous Perjeta and Herceptin) is a new fixed-dose formulation of Perjeta and Herceptin with Halozyme Therapeutics Enhanze drug delivery technology.

Trastuzumab in Phesgo is the same monoclonal antibody as in IV Herceptin and pertuzumab in Phesgo is the same monoclonal antibody as in IV Perjeta. The mechanisms of action of Perjeta and Herceptin are believed to complement each other, as both bind to the HER2 receptor, but to different places. The combination of Perjeta and Herceptin is thought to provide a more comprehensive, dual blockade of HER signaling pathways, thus preventing tumor cell growth and survival.

Halozymes Enhanze drug delivery technology may enable and optimize SC drug delivery for appropriate co-administered therapeutics. The technology is based on a proprietary recombinant human hyaluronidase PH20 (rHuPH20), an enzyme that temporarily degrades hyaluronan a glycosaminoglycan or chain of natural sugars in the body, to aid in the dispersion and absorption of other injected therapeutic drugs.

Phesgo Indications and Important Safety Information

Phesgo (pertuzumab, trastuzumab, and hyaluronidase-zzxf) is a prescription medicine approved for use in combination with chemotherapy for:

Phesgo is also approved for use in combination with docetaxel in adults who have HER2-positive breast cancer that has spread to different parts of the body (metastatic) and who have not received anti-HER2 therapy or chemotherapy for metastatic breast cancer.

Important Safety Information

What should patients know about side effects with Phesgo?

Most serious side effects with Phesgo

Phesgo may cause heart problems, including those without symptoms (such as reduced heart function) and those with symptoms (such as congestive heart failure).

Receiving Phesgo during pregnancy can result in the death of an unborn baby and birth defects.

Phesgo may cause serious lung problems.

Who should not receive Phesgo?

Other possible serious side effects

Most common side effects

The most common side effects of Phesgo when given with chemotherapy as part of an early breast cancer regimen are:

The most common side effects of Phesgo when given with docetaxel for treatment of breast cancer that has spread to other parts of the body (metastatic) are:

Patients are encouraged to report side effects to Genentech and the FDA. Report side effects to the FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch. Report side effects to Genentech at 1-888-835-2555.

Patients should talk to a healthcare professional for more information about the benefits and risks of Phesgo.

Please see full Prescribing Information for additional Important Safety Information, including most serious side effects.

If a patient cannot afford their medication, visit http://www.genentech-access.com/patient for financial assistance information.

About Expanded Access Treatment Protocol for Continuity of Care During COVID-19

Genentech launched an expanded access treatment protocol in the United States, where the FDC of Perjeta and Herceptin is administered at home by a home health nursing provider. The study will continue beyond approval, aiming to help continuity of care during the COVID-19 pandemic for certain patients with HER2-positive breast cancer who have completed chemotherapy concurrent with Perjeta and Herceptin intravenously and are currently receiving or will be receiving Perjeta and Herceptin alone. To learn more, please visit here.

About Genentech Access Solutions

Access Solutions is part of Genentechs commitment to helping people access the Genentech medicines they are prescribed, regardless of their ability to pay. The team of in-house specialists at Access Solutions is dedicated to helping people navigate the access and reimbursement process, and to providing assistance to eligible patients in the United States who are uninsured or cannot afford the out-of-pocket costs for their medicine. To date, the team has helped more than 2 million patients access the medicines they need. Please contact Access Solutions (866) 4ACCESS/(866) 422-2377 or visit http://www.Genentech-Access.com for more information.

About Genentech in breast cancer

Genentech has been advancing breast cancer research for more than 30 years with the goal of helping as many people with the disease as possible. Our medicines, along with companion diagnostic tests, have substantially improved outcomes for HER2-positive breast cancer. As our understanding of breast cancer biology rapidly improves, we are working to identify new biomarkers and approaches to treatment for other subtypes of the disease, including triple-negative and hormone receptor-positive.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

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FDA Approves Genentech's Phesgo (Fixed-dose Combination of Perjeta and Herceptin for Subcutaneous Injection) for HER2-positive Breast Cancer -...