It's complicated: criteria for policy decisions for the clinical integration of genome‐scale sequencing for reproductive decision making

The integration of genome scale sequencing into clinical practice for reproductive decision making raises similar policy issues for carrier testing for cystic fibrosis and sickle cell anemia. In all cases, the importance of the information is based on personal values, rather than medical benefit. Policy decisions to fund such testing will depend on clinical research that demonstrates how to efectively and safely deliver that information in the context of a health system's resources.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Invited Commentary Source Type: research

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Abstract Sickle cell disease afflicts millions of people worldwide and approximately 100,000 Americans. Complications are myriad and arise as a result of complex pathological pathways 'downstream' to a point mutation in DNA, and include red blood cell membrane damage, inflammation, chronic hemolytic anemia with episodic vaso-occlusion, ischemia and pain, and ultimately risk of cumulative organ damage with reduced patient lifespan. The National Heart, Lung, and Blood Institute's 2014 evidence-based guideline for sickle cell disease -management states additional research is needed before investigational curative the...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
There is a question about what role race and wealth play in how much attention and funding the disease receives.
Source: NYT - Category: American Health Authors: Tags: Sickle Cell Anemia Preventive Medicine Blacks Cystic Fibrosis Discrimination Source Type: news
CONCLUSIONS: Currently, there is no high-quality evidence to support or challenge the continued use of hydroxyurea for managing people with transfusion-dependent β-thalassaemia. Multicentre, randomised controlled trials (compared to placebo or other available treatment, i.e. blood transfusion and iron chelation) are needed in order to assess the efficacy and safety of hydroxyurea for reducing the need for blood transfusion, for maintaining or improving mean haemoglobin levels, as well as for determining its cost-effectiveness. PMID: 30882896 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: It is expected that salmonella vaccines may be useful in people with sickle cell disease, especially in resource-poor settings where the majority of those who suffer from the condition are found. Unfortunately, there are no randomized controlled trials on the efficacy and safety of the different types of salmonella vaccines in people with sickle cell disease. We conclude that there is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of the different types of salmonella vaccines as a means of improving survival and decreasing mortality from salmonella ...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This report would examine developments at the state and federal-level, court cases, and current views from stakeholders. Policy Questions Which states have PAS laws and what do those laws provide? What protections against abuse of PAS?What have the Supreme Court and lower courts held regarding individuals’ rights under PAS laws? The laws themselves?Is there evidence that persons with disabilities are being denied treatment by insurance companies but offered PAS instead, as NCD predicted?How is PAS viewed by disability organizations? Has this evolved in the past 13 years? If so why? If not, why?Are persons with disabi...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Do genetic tests help in preparing for potential future health issues or open Pandora’s box full of concerns, worries and hypochondriac thoughts? Would you want to know your genetic fate? Whether you are at risk for Alzheimer’s or a chronic disease 30 years in advance? Would you want to live with this kind of information? Would you take the BRCA test to find out that you are at risk for breast cancer? What would you do if you were? The Medical Futurist team contemplated situations requiring hard, life-altering decisions. What would you do? Our genetic heritage carries secrets that are difficult to process In Se...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Genomics alzheimer disease DNA dna testing doctor-patient doctor-patient relationship DTC future genetics Huntington's patient empowerment personal genomics Source Type: blogs
Due to the collapse of the price of genetic testing and the FDA’s gradual ease of the regulatory environment, direct-to-consumer (DTC) genetic testing companies are booming. You can inquire your deoxyribonucleic acid about your ancestry, health risks, metabolism, and some start-ups even promise you to find true love or your kids’ talents. As the jungle of DTC companies is getting denser, more and more people ask me which genetic tests are worth the try. They love the possibility of getting access to their DNA but don’t know where to start. Here’s the DTC genetic testing kick-starter package! Naviga...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Genomics 23andme ancestry DNA DTC future genetic test Genetic testing genetics Genome genome sequencing Health 2.0 Source Type: blogs
Abstract BACKGROUND: Sickle cell disease (SCD) is a group of disorders that affects haemoglobin, which causes distorted sickle- or crescent-shaped red blood cells. It is characterized by anaemia, increased susceptibility to infections and episodes of pain. The disease is acquired by inheriting abnormal genes from both parents, the combination giving rise to different forms of the disease. Due to increased erythropoiesis in people with SCD, it is hypothesized that they are at an increased risk for folate deficiency. For this reason, children and adults with SCD, particularly those with sickle cell anaemia, commonly...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: While Niprisan® appeared to be safe and effective in reducing severe painful crises over a six-month follow-up period, further trials are required to assess its role in the management of people with sickle cell disease and the results of its multicentre trials are awaited. Currently no conclusions can be made regarding the efficacy of Ciklavit®. Based on the published results for Niprisan® and in view of the limitations in data collection and analysis of both trials, phytomedicines may have a potential beneficial effect in reducing painful crises in sickle cell disease. This needs to be further val...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
The recent shutdown ofClaritas Genomics came as a surprise to many lab professionals with some reports making reference to the possibility that inadequate reimbursement for genetic testing may have been the root cause (see:Sudden Shutdown of Claritas Genomics After Five Years as A Leading Source of Pediatric Genetic Testing..) Below is an excerpt from the article:[The shutdown of Claritas may be] the latest market sign of how health insurers are making it difficult for labs to get paid for proprietary molecular diagnostic assays and genetic tests....Claritas was like other genetic testing laboratories... tha...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Industry News Clinical Lab Testing Food and Drug Administration Genomic Testing Lab Industry Trends Lab Regulation Medical Consumerism Medical Research Public Health Source Type: blogs
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