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Category Archives: Genetic Medicine

We’ve Sequenced the Human Genome. So Why Haven’t We Cured More Diseases? – Discover Magazine

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winningjournalist imagined2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate,said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health,predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clintonstatedthe Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recentarticle in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation ofbipolar disorder,schizophreniaandalcoholism, among other conditions and behaviors. These articles drewmassive attentionin thepopular media, but weresoonretractedorfailedattemptsatreplication. These reevaluations completely undermined the initial conclusions, which often had relied onmisguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such asHuntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

A silver bullet genetic fix is still elusive for most diseases. (Credit: drpnncpptak/Shutterstock)

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy.Gene therapyhas gradually progressed in research along a very bumpy path, which has included accidentally causingleukemiaandat least one death, but doctors recently have been successful treatingsome rare diseasesin which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

This article is republished from The Conversation under a Creative Commons license. Read the original article. This opinions expressed in this article belong solely to the author.

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High Testosterone in Women Linked to Type 2 Diabetes – Technology Networks

Having genetically higher testosterone levels increases the risk of metabolic diseases such as type 2 diabetes in women, while reducing the risk in men. Higher testosterone levels also increase the risks of breast and endometrial cancers in women, and prostate cancer in men.

The findings come from the largest study to date on the genetic regulation of sex hormone levels, published today inNature Medicineand led by researchers from the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge and the University of Exeter. Despite finding a strong genetic component to circulating testosterone levels in men and women, the authors found that the genetic factors involved were very different between the sexes.

The team used genome wide association studies (GWAS) in 425,097 UK Biobank participants to identify 2,571 genetic variations associated with differences in the levels of the sex hormone testosterone and its binding protein sex-hormone binding globulin (SHGB).

The researchers verified their genetic analyses in additional studies, including the EPIC-Norfolk study and Twins UK, and found a high level of agreement with their results in UK Biobank.

The team next used an approach called Mendelian randomisation, which uses naturally occurring genetic differences to understand whether known associations between testosterone levels and disease are causal rather than correlative. They found that in women, genetically higher testosterone increases the risks of type 2 diabetes by 37 per cent, and polycystic ovary syndrome (PCOS) by 51 per cent. However, they also found that having higher testosterone levels reduces T2D risk in men by 14 per cent. Additionally, they found that genetically higher testosterone levels increased the risks of breast and endometrial cancers in women, and prostate cancer in men.

Dr John Perry from the MRC Epidemiology Unit at the University of Cambridge, and joint senior author on the paper, says: "Our findings that genetically higher testosterone levels increase the risk of PCOS in women is important in understanding the role of testosterone in the origin of this common disorder, rather than simply being a consequence of this condition.

"Likewise, in men testosterone-reducing therapies are widely used to treat prostate cancer, but until now it was uncertain whether lower testosterone levels are also protective against developing prostate cancer. Our findings show how genetic techniques such as Mendelian randomisation are useful in understanding of the risks and benefits of hormone therapies."

Dr Katherine Ruth, of the University of Exeter, one of the lead authors of the paper, added: "Our findings provide unique insights into the disease impacts of testosterone. In particular they emphasise the importance ofconsidering men and women separately in studies,as we saw opposite effects for testosterone on diabetes. Caution is needed in using our results to justify use of testosterone supplements, until we can do similar studies of testosterone with other diseases, especially cardiovascular disease."

Reference: Ruth et al. (2020).Using human genetics to understand the disease impacts of testosterone in men and women. Nature Medicine.DOI: https://doi.org/10.1038/s41591-020-0751-5.

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Santa Barbara Breast Surgeon Participates in Study Examining Whether Breast Milk Could Demonstrate Predisposition to Breast Cancer – BioSpace

SANTA BARBARA, Calif., Feb. 12, 2020 /PRNewswire/ -- Fellowship-trained breast surgeon Katrina Mitchell, MD, IBCLC, FACS, is joining forces with University of Massachusetts-Amherst cancer researchers on a study that will examine breast milk from nursing women who have a pathogenic BRCA1 or BRCA2 genetic mutation. "It is an honor to participate in such groundbreaking research with this team,"explainsDr. Mitchell. "Breast milk is a fascinating biospecimen with potential to change our approach to the early detection of breast cancer." In addition to recruiting participants, Dr. Mitchell will act as a clinical consultant and assist in manuscript writing.

Women who have these genetic mutations face a significant risk, even at a young age, of breast and ovarian cancer. No fully-effective breast cancer screening method currently exists for nursing mothers in this high-risk group. Newmothers, and to a greater extent those with a BRCA mutation, also face an increased risk of pregnancy-associated breast cancer (PABC), which can be aggressive, for about a decade postpartum. "Breast milk essentially provides a liquid biopsy of the entire breast,"says lead researcher Kathleen Arcaro from the UMass Breastmilk Lab. "We hope to better understand breast tumor development and progression in these at-risk women." Through the examination of breast milk cells, the hope is to uncover profiles that may identify risk of breast disease. The research team hopes to ultimately develop a new, noninvasive test that would use women's breast milk to detect breast cancer in its earliest stages.

The study is recruiting participants from across the U.S. through social mediaand with the help of breast surgeons and lactation specialists like Dr. Mitchell.Women will provide breast milk and saliva samples, and their BRCA test results. They'll need to complete a health questionnaire and agree to annual, long-term follow-up. A control group with neither a BRCA mutation nor multiple close relatives with breast cancer is also being recruited. The research is supported by a grant from the Department of Defense's Breast Cancer Research Program.

Dr. Mitchell has a special interest in breastfeeding medicine. In addition to her breast surgical oncological fellowship training at MD Anderson Cancer Center, she is a board-certified lactation consultant and lectures nationally and internationally on topics related to lactation and breast cancer.

Ridley-Tree Cancer Center at Sansum ClinicRidley-Tree Cancer Center is a world-class regional cancer facility in Santa Barbara, California that provides a level of multidisciplinary medical care on par with major academic centers. Our highly-trained physicians and compassionate staff utilize the latest technology, clinical research and protocols, as well asevidence-based wellness programs and services, to provide every opportunity for successful treatment and recovery. Ridley-Tree extends its reach with an office in Solvang to provide all patients in Santa Barbara County access to the myriad of services offered, close to home. This kind of care is made possible thanks to the generosity of community donors and our long-standing partnership with the Cancer Foundation of Santa Barbara. http://www.ridleytreecc.org

Contact: Nicole Young,Marketing Departmentnyoung@sansumclinic.orgO: 805-681-7783C: 310-699-2629

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SOURCE Ridley-Tree Cancer Center at Sansum Clinic

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Santa Barbara Breast Surgeon Participates in Study Examining Whether Breast Milk Could Demonstrate Predisposition to Breast Cancer - BioSpace

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The Right Not to Know and the Obligation to Know – Practical Ethics

By Ben Davies

Most people accept that patients have a strong claim (perhaps with some exceptions) to be told information that is relevant to their health and medical care. Patients have a Right to Know. More controversial is the claim that this control goes the other way, too. Some people claim, and others deny, that patients also have a Right Not to Know.

A number of considerations (harm to the patient; autonomy; privacy) have been marshalled on either side of this debate over the past few decades (e.g. Laurie 2004; Robertson and Savulescu 2001; Herring and Foster 2012; Takala 2019). In this post, I focus on a distinct argument and its apparently unassailable logic. This is the view that a comprehensive Right Not to Know cannot be justified because in many cases a patients ignorance will likely lead harm to third parties (Council of Europe 1997; Rhodes 1998; Harris and Keywood 2001).

The logic of this argument is best put by Rhodes, who focuses on our rights and obligations with respect to genetic knowledge (though the priniple applies more widely). As she presents it, the lack of a Right Not to Know follows from the logic of a right, since To have a right is to have a freedom to do or not do, while to have a duty is to have no moral freedom. If you have an obligation to acquire certain medical information about yourself (as you do if your ignorance would harm others), you thus lack the moral freedom not to acquire that information. And that is, in Rhodess thinking, logically equivalent to lacking a right not to have that information.

This argument, superficially persuasive though it might be, faces two problems. Firstly, it is not true that the philosophers understanding of rights and duties as Rhodes puts it is as she suggests. Although she acknowledges as much in a footnote, her central argument ignores a further category of rights that exist in the canonical analysis by Hohfeld (1919). As well as understanding rights as liberties (i.e. absences of duties), Hohfeld suggests that we can understand them in several other ways, including as claims. Briefly, if A holds a claim-right against B, that means that B has a duty to A to do or not do something nothing is said about As duties (Wenar 2015).

The second issue is that in introducing this distinction, we can locate rights at different levels. Assume it is true that in some situations, a patient has an obligation to learn as much as possible about his health because of the potential impact on others. In this case it is true that he has a duty and hence no freedom at what we might call the moral level. Yet we might think that even in such cases, it is important that patients retain strong institutional protections against medical professionals, including a control over access to information about themselves. This would be a claim that patients have against medical professionals, justified at the institutional level of health care.

There is no paradox here. A patient can have a claim against, say, his doctor that she not give him information even if he has a duty (held towards separate individuals, such as relatives) to seek out that information. The compatibility of these two claims, and thus the failure of the argument from a duty to others, is obscured by ambiguity in the phrase, a Right Not to Know.

References

Council of Europe. 1997. Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine: Convention on human rights and biomedicine. European Treaty Series 164

J. Harris and K. Keywood. 2001. Ignorance, information and autonomy. Theoretical Medicine 22: 415-36.

J. Herring and C. Foster. 2012. Please dont tell me: The right not to know. Cambridge Quarterly of Healthcare Ethics 21: 20-29

W. Hohfeld. 1919.Fundamental Legal Conceptions, W. Cook (ed.). New Haven: Yale University Press.

G. Laurie. 2004. Recognizing the right not to know: Conceptual, professional, and legal implications. Journal of Law, Medicine and Ethics 42: 53-63.

R. Rhodes. 1998. Genetic links, family ties, and social bonds: Rights and responsibilities in the face of genetic knowledge. Journal of Medicine and Philosophy 23: 10-30.

S. Robertson and J. Savulescu. 2001. Is there a case in favour of predictive genetic testing in young children? Bioethics 15: 26-49

T. Takala. 2019. Genetic moralism and health. Cambridge Quarterly of Healthcare Ethics 28: 225-235

L. Wenar. Rights.The Stanford Encyclopedia of Philosophy

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Self-Neglect Among Seniors Is A Growing, Hard-To-Spot Problem That Leads To Downward Spiral, Report Says – Kaiser Health News

Being unable to provide themselves with food, follow medication schedules and maintain homes are growing problems for the elderly, according to HHS. Public health news is on epilepsy, breastfeeding, obesity, risks of parabens, sugary drinks, rare childhood cancer, teen depression, skin lightening, miscarriages, longevity and exercise, heart disease symptoms in women, and stroke recovery, as well.

The Wall Street Journal:Growing Risk To Americas Seniors: ThemselvesRising numbers of older adults are unable to care for themselves, often leading to serious health problems and even death, according to state and local government agencies. So-called self-neglect cases generally involve the inability to perform essential self-care, such as providing oneself with food, shelter, personal hygiene, medication and safety precautions. Seniors who no longer drive, for example, are often unable to get to medical appointments, exacerbating health problems that can render them incapable of caring for themselves. A fall can result in a hip fracture leaving one bedridden and unable to care for oneself. Failure to pay bills for the phone or other utilities could lead to service cutoffs. Forgetting to pay rent could lead to the loss of a home. (Hayashi, 2/11)

The Associated Press:Epilepsy Treatment Side Effect: New Insights About The BrainThough Genette Hofmann is still using her brain, last month she donated a bit of it to science. Hofmann needed the surgery her Seattle surgeon was looking deep into her brain, where he found the trigger for the epileptic seizures that had disrupted her life for 30 years. But to get there, he teased out a bit of healthy tissue the size of a lima bean, and with her blessing quickly sent it to some researchers, who were eager to study brain cells while they were still alive. (2/11)

NPR:Why Breastfeeding Rates Are Lower Among Black MomsTo explain the persistence of lower rates of breastfeeding among black mothers, we should look to systemic and historic factors rather than individual choice. That's the argument of Skimmed: Breastfeeding, Race, and Injustice (Stanford University Press) by law professor Andrea Freeman, which provides in-depth historical, socioeconomic and legal context that sheds new light on black motherhood. (July, 2/11)

The New York Times:Combining Aerobics And Weights Tied To Optimal Weight ControlTo stave off obesity, we might want to both stride and lift, according to an important, large-scale new study of how different types of exercise affect the incidence of obesity in America. The study, which involved health records for almost 1.7 million men and women, indicates that people who exercise in almost any way are less likely to be obese than those who are sedentary. But the study also finds that the odds of being normal weight are greatest for those who complete both aerobic exercise and weight training, at least occasionally. (Reynolds, 2/12)

Reuters:Mother's Beauty Products Might Impact Girls' Weight GainMothers who use beauty products containing chemicals known as parabens during pregnancy may be more likely to have overweight daughters, a small study suggests. Babies tended to be heavier at birth, and more likely to become overweight by age 8, when mothers used makeup, lotions and other common beauty products containing parabens while pregnant, the study found. One of these chemicals, butylparaben, was associated with excess weight only in girls. (2/11)

The New York Times:Sugary Drink Consumption Plunges In Chile After New Food LawFour years after Chile embraced the worlds most sweeping measures to combat mounting obesity, a partial verdict on their effectiveness is in: Chileans are drinking a lot fewer sugar-laden beverages, according to study published Tuesday in the journal PLOS Medicine. Consumption of sugar-sweetened drinks dropped nearly 25 percent in the 18 months after Chile adopted a raft of regulations that included advertising restrictions on unhealthy foods, bold front-of-package warning labels and a ban on junk food in schools. (Jacobs, 2/11)

CNN:Three Young Brothers Are Fighting The Same Rare Childhood CancerThree brothers, none of them older than 5, are battling the same type of rare childhood cancer. Aaron and Angie Rush have three boys -- Tristen, 5, Caison, 3, and Carter, 7 months -- and all have been diagnosed with retinoblastoma. (Hughes, 2/11)

CNN:Keep Your Teen Moving To Reduce Risk Of Depression, Study SaysScience shows moderate to vigorous aerobic exercise is good for us -- it improves sleep; lowers blood pressure; protects against heart disease, diabetes and cancer; reduces stress; boosts mood; and fights anxiety and depression. It's especially important in adolescence, where the first signs of depression often begin, studies show. But unless your child is an athlete, it can be tough to wean them away from social media and the ever-present screen to swim laps or go for a blood-pumping jog. (LaMotte, 2/11)

MPR:Redefining Beauty: Advocates Work To Make Skin Lightening A Public Health IssueAmira Adawe is on a mission to ensure those who are black and brown love the skin theyre in. This week, the state recognized Adawes work and awarded her nonprofit, The BeautyWell Project, a $55,000 grant to continue educating communities of color about the negative health effects of using products to lighten their skin. The grant was one of four allocated by the state Health Department to help communities begin to talk about the often taboo topic as a public health issue. (Zehn, 2/11)

NBC News:Many Miscarriages Are Still A Mystery. A New Test Could Give Women Faster Answers.While miscarriages occur in up to a quarter of known pregnancies and about 1 percent of women experience three or more miscarriages it is rare for patients to learn the reason why. Chromosomal abnormalities are by far the most common cause, but genetic tests on fetal tissue cost thousands of dollars, and results can take weeks. In most cases, genetic testing is not even offered until a patient has had three or more miscarriages. Advances in rapid genetic testing may change that. By combining several new technologies, Dr. Zev Williams, director of the Columbia University Fertility Center in New York, has developed what he says is a faster, cheaper method to test fetal tissue for genetic abnormalities. (Chuck, 2/10)

CNN:Good News For Trump: Playing Golf May Help Older Adults Live Longer, Study SaysPresident Trump has spent more than 260 days at one of his golf clubs during his first three years in office as of February 2, according to CNN's tally. Now he can rest easy knowing that time hasn't gone to waste, according to preliminary research, which found that playing golf at least once a month can lower older adults' risk of premature death. (Rogers, 2/12)

CBS News:Women Face Some Unique Risks For Heart Disease. Here Are Symptoms To Look Out For.Heart disease is typically thought of as a male disease, but it's also the leading cause of deathfor women, killing nearly 420,000 women in the U.S. each year. Understanding the risk can help women take steps to protect their health. The most common sign or symptom of heart disease is chest pain but that's not always the case for women, explains CBS News medical contributor Dr. Tara Narula, who is a cardiologist.(McNamara, 2/11)

ABC News:Mindfulness Helps Obese Children Lose Weight And Decrease Anxiety: StudyThere may be a new secret ingredient to the tried and true methods of diet and exercise for weight loss. A new study has shown that mindfulness can aid in weight loss for obese children who also have anxiety. "Childhood obesity not only leads to chronic medical conditions such as diabetes and high blood pressure, it also leads to poor self-esteem and depression," said Dr. Mona Degan, a primary care physician practicing in Los Angeles. (Safai, 2/11)

CNN:Being An Optimist Will Help Recovery After Stroke, Study SaysHaving a stroke is no laughing matter. But if you can stay optimistic about your recovery, a new study says you may be able to speed up your healing and reduce disability. Higher levels of optimism in stroke survivors was associated with reduced stroke severity, less physical disability and lower levels of inflammation at the end of three months, according to preliminary research presented at the American Stroke Association's 2020 International Stroke Conference on Wednesday. (LaMotte, 2/12)

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Astonishing growth in Precision Medicine Software Market is expected to grow at CAGR 12.3% from 2019 to 2027 – Instant Tech News

Some of the prominent players operating in the precision medicine software market include 2bPrecise, Syapse, Inc., IBM Corporation

Precision medicine is a prototype in healthcare which provides the customization of healthcare with medical decisions, practices, treatments, and products for patients in person. It states about right therapeutic approach for the right patient at the right time. The use of precision medicine is to identify which treatment approach is effective for patients on the basis of genetic, environment, and lifestyle factors. Precision medicine software allows the healthcare professionals (HCPs) to provide personalized treatment plans to patients based on their genetic content. It gives a wide range of applications in both the clinical and diagnostic areas and it combines genetic and clinical data to cater targeted patient care, which is increasing the demand of precision medicine software market.

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The global precision medicine software market is experiencing lucrative growth owing to the increase in the number of patients suffering from chronic diseases such as cancer, heart diseases, and diabetes. For instance, as per the data presented by International Agency for Research on Cancer (IARC), in 2018, the cancer burden was 18.1 million new cases and 9.6 million deaths across the world. One in five men and one in six women around the globe develop cancer during their lifetime, and one in eight men and one in 11 women die from the disease.

Koninklijke Philips N.V. (Philips Healthcare), a multinational electronics company focusing on healthcare, offers precision medicine platform, namely, IntelliSpace. It enables end-to-end oncology care or cancer management. The platform unifies and streamlines oncology care throughout the patient journey from molecular diagnostics to therapy recommendations. IntelliSpace, a precision medicine oncology solution integrates information over different clinical domains such as pathology, electronic health record (EHR) systems, radiology, and genomics. It consolidates all key patient and medical data in one location to represent a clear, comprehensible view of patient status in its disease and enable data driven clinical decision support, which in turn is propelling the precision medicine software market.

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Precision medicine with the integration of artificial intelligence (AI) will go to the next level with more accuracy and prediction of outcome for patients. Its major benefit for precision medicine is that it predicts outcomes as well as enables healthcare professionals to predict patients probability of having diseases in the future, thus driving the demand of precision medicine software market. Oracle, an American multinational computer technology corporation offers precision medicine software that enables researchers, clinicians, and molecular pathologists to work together. The software addresses data aggregation, normalization and workflow issues, knowledge exchange which restricts timely creation of patient molecular profiles and it also enables spectrum testing from gene panels through whole genome sequencing, and integration with electronic health record systems for seamless clinical workflow.

The detailed research study provides qualitative and quantitative analysis of the global precision medicine software market. The precision medicine software market has been analyzed from demand as well as supply side. The demand side analysis covers market revenue across regions and further across all the major countries. The supply side analysis covers the major market players and their regional and global presence and strategies. The geographical analysis done emphasizes on each of the major countries across North America, Europe, Asia Pacific, Middle East & Africa and Latin America.

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Key Findings of the Report:

Global Precision Medicine Software Market

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Astonishing growth in Precision Medicine Software Market is expected to grow at CAGR 12.3% from 2019 to 2027 - Instant Tech News

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