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This paper is for patient recruitment at a rare genomics institute, it is important to include a graph of figures on how patients and stakeholders are currently recruited, and how they can take a more personalized approach to recruit new patients and stakeholders. For example, University of Colorado is using a more personalized approach of recruiting patients. Although RGi does not have the money to resources for this type of infrastructure, they could possibly collaborate with this institution. See attached PDF's I have attached an excerpt. Would this change the price, or will the price remain the same?
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THE RARE GENOMIC INSTITUTE-COMPANY BACKGROUND
This is a non-profitable organisation. It provides access to various scientist and physicians to research about the diseases which are generally not studied. As the name suggests these diseases are rare. Many of them go undiagnosed during a person’s lifetime of suffering. There is online crowd funding mechanism to fund this Institute. This institute works as a platform to bring people who are interested in research about rare genetic disorders. Crowd funding is also attracted through this mechanism. This institute not only bring the scientists together but also the patients and family of people suffering from rare genetic disorder come together to help each other. There should not be a feeling that they are the only ones to suffer. It is very difficult for them to find each other without a proper platform. An RG site is capable of DNA sequencing and the physician and scientists can interpret data from sequencing. There is individual attention from patient advocate given which identify the site best matching the patients. It will guide the patient to complete DNA sequencing and the results. RG is a completely volunteer driven organisation. People from the different field such as graduates in medicine , business, law dedicate their time to this organisation. They help the families and their children affected by the rare genetic disorder.
PROJECT DEFINITION AND APPROACH OF RG
Approx 250 million people worldwide are affected with rare genetic diseases. Most of them do not understand the disease and are left on their own to survive. The institute provides a powerful tool of genome sequencing for a proper understanding of the disease.( Boycott et al, 2013). Genome sequencing is the most advanced tool used in the proper understanding of the disease by genetic sequencing. In this, the gaps in DNA strands are in identified. Their influences on life are studied. This institute has a number of researchers and clinicians. Patients can approach them through this institute for a better life.
RG acts as a community for helping people with rare diseases and also find a hope for a cure. It provides necessary tools to the patient for a better understanding of their diseases. Also, the family can have a hope of a cure. As each disease is complex and rare in its own way, at RG personalised care and attention are hence required and given.
There is a criterion for designating a disease rare. A disease is called rare when there is less than 200000 Americans suffering from it and less than 12000 people in Europe are suffering. There are few facts we should know about the rare disease. This will help us understanding why an organisational level approach is required to find a cure for them. 30% of people suffering from these diseases won’t get to see their 5th birthday. These diseases are responsible for nearly 35% of deaths in the US every year. 80% of the patient suffers from one of the 350 diseases out of 7000 rare diseases. The costs of genome sequencing have reduced drastically in past decade. Making it possible to study these rare genetic disorders. At rare Genomics there is a RareREACH programme in which researchers directly works with the patients, caregivers and physicians . They guide and coordinate whole exome and genome sequencing with the various RG laboratories they are a partner with. At present 2 new genetic disorders have been diagnosed through this institute.
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PERSONAL OBJECTIVES AND APPROACH
Recruiting patients with the rare genetic disorder is not easy. Their retention is also required. As the entire process is very time taking there are chances of losing contact with the patient. The DNA Sequencing alone takes 2-6 months. It may take more time in some cases. There is certain way which can be implemented in patient recruitment programme that may provide successful rare disease patient enrolment and retention. There are certain things which can be done to enhance the participation by rare genomic disease patients. There can be accelerated the review of their condition. The pharmacological companies can be involved in the development of rare disease drug often know as an orphan drug. The orphan drug development may not be a commercial success. But for patients suffering from rare genome diseases it may be their last hope. Also, there should be encouraged funding through campaigns. Research grant from the government and private organisations should be encouraged more and more. There can be rewards such as tax credits should be given to patients who opt for clinical trials. The main recruitment and retention challenge is the paucity the scarcity of people suffering from this disease. There are more than 50% of this cases which affect children below 5 years of age. This might be a major hassle is quick patient recruitment. RG have many sites. We can enrol on the prevalence of a particular disease in that geographic location. This will lead to faster enrolment. For further retention of the patient minute changes such as arranging the mode of transport for the patient from their home to the RG site can be done. This will encourage the patient as well as the caregiver to take up the travel and continue to the programme. As genetic mapping it takes 2-6 months. Patients tend to feel disconnected. The RG should continuously be in contact with the patient through telecalls and E-mail. This also gives a hope to the patient and the caregivers for a cure. This can significantly increase the number of patients. (Boeckxstaens et al, 2014).
NEWER APPROACHES AND OBJECTIVES
There can be in-home clinical trial facilities. Genetic diseases are of many types. Few of them do allow the sufferer to travel. By giving them the option of the trial at home service there can be a significant jump of 50% inpatient participation. This can also save money invested by the organization in traveling and lodging. The patient’s fluid sample can also be collected from home and can be delivered to the central lab for study. The result and strategies of a clinical trial should be on web-based data repositories. We should enable the researchers to conduct various epidemiological studies. The sites should be efficient enough and should not cause any delay. Better site planning is required at the stage of application fill itself. An effective and easy application form is required which can be understood and filled by anyone. Real-time surveillance is required once the clinical trial starts. Studies on orphan drugs can also be evaluated in case there is a diagnosis present. There should be a proper safeguard of patient information. These all will increase patient participation. Through this data, we can recruit patients from a specific area having the same kind of rare genome disease. There are already online patient care communities and other mobile e-recruitment tools used nowadays. There can be a contribution from all the channels such as home patient support, e-recruitment that will increase the number of participants for the program. (Koopmans, 2013)
THE IMPACT AND NEW TECHNIQUES
First of all, we need to understand the reason behind the rare genetic disorder. A genetic disorder is a disease which is caused by a change in DNA sequence. The change can be a whole change in DNA SEQUENCE or in a part of it. There can be a mutation in one gene or in multiple genes. It can be due to environmental factors also. Like nuclear radiation leakage. This can cause an alteration in DNA structure very rapidly. Mutations take place at a faster rate. Causing severe structural changes. Environmental factors are also very much responsible for the genetic disorders. There is few disease which we genetically inherited by our parents. There are other genetic diseases which are acquired throughout the life by mutation. There are not inherited. They happen randomly or may be due to some changes in the environment. This also involves rare cancers. The genetic disorders are mainly inherited. The genes pass through generations. (Franke et al, 2012). AT time due to mutation there can be a spontaneous onset of disease in the family which no one had before. The rare genetic disorders mainly also act with environmental factors. There are mainly 3 types of genetic disorder. Firstly there is Monogenic disorder which affects only one gene. Secondly, there is a Multifactorial inheritance disorder. These are genetic mutation caused by a combination of inherited genes acting together with environmental factors. This may involve multiple genes. The third one is a chromosome disorder. This is mainly by an excessive deficiency of genes on the chromosomes. These were the main Causes the genetic disease. (Aguilera et al, 2013).
Many genetic disorders result from gene changes in the body. These genes are present in very cell. Hence practically it is not possible to treat every cell of the body. They affect mainly body systems. But there are ways to manage or treat some of the associated symptoms. There is a group of a genetic disorder called the inborn error of metabolism. In this, there is a disruption in production of specific enzymes. That enzyme might be altered or missing. In this case limiting intake of certain substances or treating the person with enzyme replacement therapy can help. This will stop the building of toxins which normally would have been broken down by the missing enzymes.
Every genetic disorder has its own type and own kind of presentation. Every disorder needs to be taken care separately. There are different treatment and management strategies for different genetic diseases. The genetic disorder associated with a heart can be treated with surgery. Disorders like sickle cell anemia can be treated by bone marrow transplant. This will allow the formation of new normal blood cells. The early treatment of genetic diseases, better is the chances of survival. Some genetic disorders can give rise to a certain state of cancer in the future. This requires management and more frequent screening of the particular disease. There are certain genetic disorders that are incompatible with life. This may lead to fetus miscarriage or the embryo is stillborn or dies shortly after birth. (Wright et al, 2015) Most treatment available for a genetic mutation does not alter the genetic disorder. Gene therapy may involve changing a person’s genetic pattern. There can be the development of orphan drug. The drug may not be a commercial success but it can help to cure specific genetic diseases.
Gene therapy is the correct way to treat genetic disorders. A single gene is introduced to correct a mutant gene. These disorders are corrected using patients having monogenic disorders. Moreover, the development of gene therapy is for a very less number of patients. This does not attract commercial sponsors. The resources are also scarce in this. Transferring a theory to the practical application has a lot of hindrances. All these need to be addressed. Mostly things are at a pre-clinical stage and there are most of the data available from animal studies only. The rare disease symptoms are very uncommon to the doctors. Therefore they represent a huge medical challenge to the physician. The patient’s with rare genetic disorders are found worldwide. If all of them would have been living in one country they will form 3rd most populous country in the world. In some cases, the symptoms do not appear immediately after birth. 95% of these diseases do not have a single approved drug. During the first 25years of the Orphan Drug ACT, only 326 new drugs were approved by FDA.( Nelson et al, 2012). This was for all the rare diseases combined. Approximately 50% of the rare diseases do not have any disease-specific foundation. The price of developing an orphan drug is too high. Some drugs might come emerging soon. This will help in gene editing and gene therapy. The cost may go up to $1 million or more for 1 patient. The reason for these drugs of being so expensive is the target of these medicines is very rare, it requires a completely dedicated team of researchers to develop. A single treatment will be able to stabilize or reverse the situation. To promote the development of these drugs in 1983 Orphan drug ACT gave special tax incentives and market benefits to the companies who successfully develop an orphan drug. The orphan drugs may carry certain side effects as the clinical trials are at a small scale. We need to keep our efforts for orphan drug development on-going. For many thousands of patients worldwide the only option is supportive care. In which they witness the suffering for years and death is incalculable. It is nearly impossible for us to stand in the shoes of those families. Drug develop will open up new perspectives of a cure for them. It is evident that the new treatment which is involved in curing hepatitis C for which the therapy cost is $60000 to $80000 cures the patient. In the case of absence of theses treatment, the patient will eventually have liver failure or liver cancer. If we spend $1 million to treat a child with a genetic disorder then imagine the young child will generate a better return to society and nation. Right now the cost of developing these drugs is being funded through government and private organizations. (Zuk et al, 2014).
PROVIDING THE CORRECT SUPPORT
There are around 7000 rare diseases in the world. The rare diseases patient’s family and caregivers share many feeling in common. This is the need of support for whatever the rare disease causes them. Living with a rare disease is a constant battle. It is a fight that will last until the end of life. So there are many ways through which the one can cope with the disease.
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Support groups- It is always good to find someone who really understands our disease and concerns. Finding people with same illness will help. There are many ways one can find its own kind. Social media has given us enough platforms. Along with increasing our social circle, it helps us finding people having same rare kind of illness. Through this one can come to know what are the ways which others are getting treatment. Is there any breakthrough treatment in their country or region. Are there any more people suffering from it? In olden times this rare disease was thought to be a curse. There were times when the discovery of DNA and genome had not taken place. For many people having these kind of diseases was considered a curse. Due to the paucity of the disease, it was thought that only that particular person is suffering from that disease. But now with the evolution of new techniques, it has been found that these are actually a rare genetic disease and there can be more people in the world suffering from this. (Schumacher et al, 2014).
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Talking about your disease- There can be a closed group of family and friends who really understands the disease condition. Talking to them and sharing the concerns can be very helpful. Keeping things to you can be much more harmful in other aspects. It might make the condition more complex at a mental level. There are many rare diseases which limit a person’s friend circle. If they chose to be alone there condition might decline further. It is very important to talk to family and friends.
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Having a hobby- Rare genetic diseases have very different manifestation. If the disease condition allows pursuing a hobby the patient must go for it. There are a thing like writing blogs, articles, painting and many different things which one can do. The limitations depend on the disease they are suffering. Having a hobby will keep them occupied also writing blogs will help them find more people suffering from the similar condition.
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Prayer/ Meditation- Fighting a rare disease are a constant battle. The mind is always preoccupied with many thoughts. It is very important to calm the mind. For this meditation or prayer can be extremely helpful. Through this, a person can allow positive thoughts to come in the mind. In this situation it is important to be positive and hopeful. It gives a reason to live. In many cases, the patient is dependent on the family. There might be many circumstances where he considers himself to be a burden on the family. To avoid this situation it is important to focus on the positive aspects of life. Through prayer and meditation, the patient will be able to achieve this.
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Supporting the caregivers- The person who is suffering is in pain. But the ultimate pain and suffering are by the caregivers. They are generally healthy. They give all their time and life to take care of the genetic disease patient. For them, it becomes emotionally and physically challenging. In their case, each day they have with them is a gift. If we can find help for them then it will help to make there and the patient life better. Caregivers generally become physically tired. Their job never ends. Hence it is important to support the caregivers also.( Weare, 2013).
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Aguilera, A., & García-Muse, T. (2013). Causes of genome instability. Annual review of genetics, 47, 1-32.
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Boeckxstaens, G., El-Serag, H. B., Smout, A. J., & Kahrilas, P. J. (2014). Symptomatic reflux disease: the present, the past and the future. Gut, gutjnl-2013.
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Boycott, K. M., Vanstone, M. R., Bulman, D. E., & MacKenzie, A. E. (2013). Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nature Reviews Genetics, 14(10), 681-691.
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Franke, B., Faraone, S. V., Asherson, P., Buitelaar, J., Bau, C. H. D., Ramos-Quiroga, J. A., ... & Lesch, K. P. (2012). The genetics of attention deficit/hyperactivity disorder in adults, a review. Molecular psychiatry, 17(10), 960-987.
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Koopmans, M. (2013). Surveillance strategy for early detection of unusual infectious disease events. Current opinion in virology, 3(2), 185-191.
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Nelson, M. R., Wegmann, D., Ehm, M. G., Kessner, D., Jean, P. S., Verzilli, C., ... & Warren, L. (2012). An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science, 337(6090), 100-104.
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Schumacher, K. R., Stringer, K. A., Donohue, J. E., Yu, S., Shaver, A., Caruthers, R. L., ... & Russell, M. W. (2014). Social media methods for studying rare diseases. Pediatrics, 133(5), e1345-e1353.
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Weare, K. (2013). Developing mindfulness with children and young people: a review of the evidence and policy context. Journal of Children's Services, 8(2), 141-153.
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Wright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., Van Kogelenberg, M., ... & Bevan, A. P. (2015). Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314.
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Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., ... & Lander, E. S. (2014). Searching for missing heritability: designing rare variant association studies. Proceedings of the National Academy of Sciences, 111(4), E455-E464.
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