Direct to consumer genetic testing provides ancestry and health risk information directly to consumers but has significant limitations. While it may promote health awareness, unexpected results can be stressful and consumers may make important medical decisions based on inaccurate or incomplete information from unregulated tests. The high rate of false positives seen in confirmatory testing suggests many consumers are receiving incorrect information from these tests. Regulatory bodies have concerns about oversight, accuracy, and inappropriate use of genetic data that could impact consumers.
Genetic Discrimination by Thalia EscobedoThaliae96
This powerpoint was part of the oral/visual component of the Advocacy Proposal, which was an important component, as it allowed me to talk about the social of genetic discrimination to my peers and propose my solution: The California Genetic Nondiscrimination Act of 2011.
Legal Issues Raised by Genetic Testing: Genetic Discrimination and Gene Patentsbkling
ACLU Attorney Sandra Park presented at SHARE on the legal protections afforded to people who have a known genetic mutation, such as BRCA 1 or 2, or who are planning to get genetic testing. Some employers may discriminate, but under the Genetic Information Non-Discrimination Act, legal protections are in place. Learn about them.
The information in this video is not intended to be a substitute for professional medical advice, diagnosis or treatment. If you'd like to view the complete webinar, go to www.sharecancersupport.org/park
Genetic Discrimination by Thalia EscobedoThaliae96
This powerpoint was part of the oral/visual component of the Advocacy Proposal, which was an important component, as it allowed me to talk about the social of genetic discrimination to my peers and propose my solution: The California Genetic Nondiscrimination Act of 2011.
Legal Issues Raised by Genetic Testing: Genetic Discrimination and Gene Patentsbkling
ACLU Attorney Sandra Park presented at SHARE on the legal protections afforded to people who have a known genetic mutation, such as BRCA 1 or 2, or who are planning to get genetic testing. Some employers may discriminate, but under the Genetic Information Non-Discrimination Act, legal protections are in place. Learn about them.
The information in this video is not intended to be a substitute for professional medical advice, diagnosis or treatment. If you'd like to view the complete webinar, go to www.sharecancersupport.org/park
These are the upcoming life science trends we can expect to see more in 2019. While healthcare research in immunomodulation and gene therapy is relevant; data-sharing, purpose-driven analytics and AI is gaining more popularity within the industry. With these technological aspects in place, the research community hopes to drive for more discoveries and medical breakthroughs.
Dare to be Different: Revamping Collaboration in Life Sciences Contract Manuf...accenture
Contract Manufacturing Organizations expansion has made the supply chain harder to manage for both life sciences companies and contract suppliers. Advanced digital technologies can enable a new era of supply chain collaboration. Visit https://accntu.re/2UVVP9F to learn more.
“Inheritance” in images, from Darwin’s “tree of life” to DNA’s iconic crystallography to the epigenetic dynamicsHowever, the script needs to be interpreted and receives meaning only from the interplay with the environment
Take a look at the below link and then answer the below questions .docxssuserf9c51d
Take a look at the below link and then answer the below questions from each of their points of view:
Link: https://www.ted.com/talks/john_wilbanks_let_s_pool_our_medical_data/transcript?language=en
When you're getting medical treatment, or taking part in medical testing, privacy is important; strict laws limit what researchers can see and know about you. But what if your medical data could be used — anonymously — by anyone seeking to test a hypothesis? John Wilbanks wonders if the desire to protect our privacy is slowing research, and if opening up medical data could lead to a wave of health care innovation.
For this blog and tying all the topics covered in the class about the epistemology of knowledge, what is your opinion on this matter? Should we share or should we not share? To be or not to Be?
I want you to answer this from different points of view:
The Patient:
The Mother/Father/Son/Daughter/Husband/Wife/Partner/Friend who is trying to help:
The Doctor:
The Hospital Administrator:
The Researcher:
The Companies/Big Pharma:
The Government:
The Government Watchdogs making sure rules are enforced:
The Philanthropists:
He slammed the papers down on the table. "Doctor, I won't do it! I just saw on the news that the prostate blood test is useless at my age. It's milking the system." His face showed determination and defiance as his wife looked on in the corner. No amount of entreating could get him to budge on the subject. Forget the 10 years of my life I had sacrificed in the pursuit of medical knowledge, he had crowdsourced on Facebook information about the prostate specific antigen test; the difference is subtle, but I had gone to medical school and he had gone to Google. Posting information on their health and all their test results is a routine event for Friday Facebook users. Proclaiming quackery, he left my office determined never to return.
Patients want that aggregation of data. Appealing to their practical nature, the more data, the faster we get to a solution, and if it contributes to research and a better future, it can only be the right decision. Family and friends would likely agree, maintaining that in the best interest of the patient, posting data, even without the benefit of anonymity, is acceptable. As MIPS / MACRA move towards population management, more integrated metrics would be of great interest to the hospital administrator as well and allows for an understanding of which markets are likely to produce the best reimbursements by virtue of their higher baseline of health; not surprisingly, we know higher income demographics produce the most compliant patients with the best medical outcomes, which is why most hospitals now are closing shop in poor neighborhoods, despite their need, and opening up in upscale areas with not only an assured revenue stream of insured clients, but better access to medications for diabetes control, better access to nutrition which means faster and improved healing post-surgery, and lower l ...
Genetic Testing Reduces Specialty Drug SpendWellDyne
An award-winning WellDyneRx study, recognized by the Academy of Managed Care Pharmacy, found that pharmacogenomics screening saved self-funded employers 5 percent in specialty drug claim costs.
These are the upcoming life science trends we can expect to see more in 2019. While healthcare research in immunomodulation and gene therapy is relevant; data-sharing, purpose-driven analytics and AI is gaining more popularity within the industry. With these technological aspects in place, the research community hopes to drive for more discoveries and medical breakthroughs.
Dare to be Different: Revamping Collaboration in Life Sciences Contract Manuf...accenture
Contract Manufacturing Organizations expansion has made the supply chain harder to manage for both life sciences companies and contract suppliers. Advanced digital technologies can enable a new era of supply chain collaboration. Visit https://accntu.re/2UVVP9F to learn more.
“Inheritance” in images, from Darwin’s “tree of life” to DNA’s iconic crystallography to the epigenetic dynamicsHowever, the script needs to be interpreted and receives meaning only from the interplay with the environment
Take a look at the below link and then answer the below questions .docxssuserf9c51d
Take a look at the below link and then answer the below questions from each of their points of view:
Link: https://www.ted.com/talks/john_wilbanks_let_s_pool_our_medical_data/transcript?language=en
When you're getting medical treatment, or taking part in medical testing, privacy is important; strict laws limit what researchers can see and know about you. But what if your medical data could be used — anonymously — by anyone seeking to test a hypothesis? John Wilbanks wonders if the desire to protect our privacy is slowing research, and if opening up medical data could lead to a wave of health care innovation.
For this blog and tying all the topics covered in the class about the epistemology of knowledge, what is your opinion on this matter? Should we share or should we not share? To be or not to Be?
I want you to answer this from different points of view:
The Patient:
The Mother/Father/Son/Daughter/Husband/Wife/Partner/Friend who is trying to help:
The Doctor:
The Hospital Administrator:
The Researcher:
The Companies/Big Pharma:
The Government:
The Government Watchdogs making sure rules are enforced:
The Philanthropists:
He slammed the papers down on the table. "Doctor, I won't do it! I just saw on the news that the prostate blood test is useless at my age. It's milking the system." His face showed determination and defiance as his wife looked on in the corner. No amount of entreating could get him to budge on the subject. Forget the 10 years of my life I had sacrificed in the pursuit of medical knowledge, he had crowdsourced on Facebook information about the prostate specific antigen test; the difference is subtle, but I had gone to medical school and he had gone to Google. Posting information on their health and all their test results is a routine event for Friday Facebook users. Proclaiming quackery, he left my office determined never to return.
Patients want that aggregation of data. Appealing to their practical nature, the more data, the faster we get to a solution, and if it contributes to research and a better future, it can only be the right decision. Family and friends would likely agree, maintaining that in the best interest of the patient, posting data, even without the benefit of anonymity, is acceptable. As MIPS / MACRA move towards population management, more integrated metrics would be of great interest to the hospital administrator as well and allows for an understanding of which markets are likely to produce the best reimbursements by virtue of their higher baseline of health; not surprisingly, we know higher income demographics produce the most compliant patients with the best medical outcomes, which is why most hospitals now are closing shop in poor neighborhoods, despite their need, and opening up in upscale areas with not only an assured revenue stream of insured clients, but better access to medications for diabetes control, better access to nutrition which means faster and improved healing post-surgery, and lower l ...
Genetic Testing Reduces Specialty Drug SpendWellDyne
An award-winning WellDyneRx study, recognized by the Academy of Managed Care Pharmacy, found that pharmacogenomics screening saved self-funded employers 5 percent in specialty drug claim costs.
Use of Genetic Databases to Advance Diagnostic Test DevelopmentEMMAIntl
In December 2018, the U.S. Food and Drug Administration formally recognized a public database that contains information about genes, genetic variants, and their relationship to disease. This blog discusses the motivation for creating such public databases and the implications for developers of genetic tests...
Humans are 99% similar to each other; but it is the 1% that is the cause of concern. This relatively small difference actually how a drug will effect our body. Pharmacogenomics is the study of how genes affect a person’s response to drugs. In order to prevent any unwanted reactions it has become necessary to consider one's genome while prescribing medicine. Thus pharmacogenomics is the starting point of personalized medicine.
What Your Saliva Reveals About You: Direct-to-Consumer Genetic TestsEMMAIntl
Direct-to-consumer (DTC) tests, such as those marketed by 23andMe, are changing the classic paradigm of health professionals ordering and interpreting genetic testing for a patient. In this article, we provide an overview of the DTC landscape and regulatory pathways...
Possible Solution for Managing the Worlds Personal Genetic Data - DNA Guide, ...DNA Compass
World DNA Day and Genome Day, Dalian China 2011
"Possible Solution for Managing the Worlds Genetic Data" given by Alice Rathjen, Founder & President DNA Guide, Inc.
Proposes genetic tests be given a rating for quality of science, medical utility and viewing risk so as to facilitate the flow of genetic information in a responsible manner from the lab to the physician and patient. Explains how technology combined with public policy could enable both privacy and personalized medicine to thrive. Advocates individual ownership over personal genetic data and suggests the genome as a data format could provide the foundation for digital human rights.
tags: DNA, genetic testing, privacy, personalized medicine, FDA regulation
Global Medical Cures™ | Genetic Testing Handbook
DISCLAIMER-
Global Medical Cures™ does not offer any medical advice, diagnosis, treatment or recommendations. Only your healthcare provider/physician can offer you information and recommendations for you to decide about your healthcare choices.
Direct To Consumer Genomics and the Future of HealthcareRyan Squire
Richard Sharp, Ph.D., Director of Bioethics Research at the Cleveland Clinic presents on direct-to-consumer genomics and the future of health care.
Dr. Sharp received his training in philosophy and medical ethics at Michigan State University.
Prior to joining the Cleveland Clinic in 2007, Dr. Sharp taught bioethics at Baylor College of Medicine and the National Institute of Environmental Health Sciences, one of the National Institutes of Health (NIH), where he directed the Program in Environmental Health Policy and Ethics.
His research examines the promotion of informed patient decision-making in clinical research, particularly research that involves genetic analyses.
2018 Genetic Testing Assessment: These slides discuss issues associated with genetic testing interpretation. All who order genetic testing should be familiar with these recent publications.
At least one in every 20 adults who seeks medical care in a U.S. emergency room or community health clinic may walk away with the wrong diagnosis, according to a new analysis that estimates that 12 million Americans a year could be affected by such errors.
Experts have often downplayed the scope of diagnostic errors not because they were unaware of the problem, but “because they were afraid to open up a can of worms they couldn't close.
Post marketing studies of drug effects must then generally include at least 10,000 exposed persons in a cohort study, or enroll diseased patients from a population of equivalent size for a case–control study. A study of this size would be 95% certain of observing at least one case of any adverse effect that occurs with an incidence of 3 per 10 000 or greater (see Chapter 3). However, studies this large are expensive and difficult to perform. Yet, these studies often need to be conducted quickly, to address acute and serious regulatory, commercial, and/or public health crises. For all of these reasons, the past two decades have seen a growing use of computerized databases containing medical care data, so called “automated databases,” as potential data sources for pharmacoepidemiology studies.
Patient safety has always been the industry’s focus during clinical trials. However, a recent spate of well-publicized patient safety issues have increased public scrutiny and the biotechnology, pharmaceutical and CRO industries' desire to improve study quality, resulting in larger, longer, more expensive trials. In this Q&A, James T. Gourzis, M.D., Ph.D., discusses issues affecting patient safety, including factors that have launched safety to the forefront; what to look for in evaluating CRO excellence; unique oncology considerations and the ramifications of the rare toxicity; optimizing the Data Monitoring Committee; budget decisions that affect patient safety and the evolution/future of FDA requirements.
-What are Standards of Care and why does the Mito community need such standards?
-Review the MMS's Standards of Care for Mitochondrial Disease and how they were developed.
-Outline upcoming MMS projects.
What you should know about genetic testing for mitochondrial disordersmitoaction
Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders."
Richard Frye, MD, PhD, FAAP, FAAN, CPI, will discuss:
*The enteric (gut) microbiome has an important influence on health and disease states in humans.
* The enteric microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function
* Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.
Exercise and nutrition in Mitochondrial Diseasemitoaction
Mark Tarnopolsky, MD, PhD, FRCP,
Depts. of Pediatrics (Neuromuscular + Neurometabolic Disease) and Medicine (Cell Biology/Metabolism, Neurology and Rehabilitation), McMaster University, Hamilton, CANADA
Diagnostic Testing for Mitochondrial Diseasemitoaction
Review traditional diagnostic pathways
Discuss newer testing that has become available in recent years
Review new approaches to attempt to shorten time to diagnosis and increase precision
How to Build Your Mitochondrial Medical Homemitoaction
Topics include:
The importance of a medical home for a mitochondrial disease patient.
Definition of a medical home.
How to establish a medical home.
Why a medical home is an important component of good patient advocacy.
Tips on maintaining a healthy medical home relationship.
Wees will describe theses issues primarily from a pediatric perspective, but she will give adult examples as well.
Wees is a patient advocate with Empowered Medical Advocacy. She assists parents and caregivers each week in navigating toward improved quality of life for their child and their families.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
The Gram stain is a fundamental technique in microbiology used to classify bacteria based on their cell wall structure. It provides a quick and simple method to distinguish between Gram-positive and Gram-negative bacteria, which have different susceptibilities to antibiotics
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
2. What is DTC Testing?
Direct to Consumer (DTC) genetic tests are advertised and sold directly to the
public.
Offers information that many include ancestry, risks of developing certain
conditions, carrier status for some autosomal recessive diseases, predicted
drug response, and non-disease phenotypic traits such as eye color.
DTC tests are not diagnostic and offers risk information for only a limited set
of conditions.
3. Who offers DTC Testing?
Family Tree DNA
My Heritage
23andMe
Ancestry
Mayo Clinic GeneGuide
Color
4. DTC Power
DTC testing may promote awareness of genetic diseases.
It may provide you with personalized information about your health, disease
risk, and other traits.
This testing may allow consumers to take a more proactive role in their
health care.
Offers a means for people to learn about their ancestral origins.
It does not require approval from an insurance company or a healthcare
provider.
Results are available relatively quickly.
Your data is added to a large database that may be used to further medical
research. Depending on the company, the database may represent up to
several million participants.
5. DTC Limitations
Unexpected information that you receive about your health, family relationships,
or ancestry may be stressful or upsetting. For example, one may learn of non-
paternity or that they are adopted.
People may make important decisions about disease treatment or prevention
based on inaccurate, incomplete or misunderstood information from their tests
results.
There is currently little oversight or regulation of testing companies.
Unproven or invalid tests can be misleading. There may not be enough scientific
evidence to link a particular genetic variation with a given disease or trait.
Genetic privacy may be compromised if testing companies use your genetic
information in an unauthorized way or if your data is stolen. For example, the
company may sell your data to corporations, research groups or may work with law
enforcement.
The results of genetic testing may impact your ability to obtain life, disability or
long-term care insurance.
6. DTC Limitations cont…
In the US, the FDA restricts DTC testing companies from offering products that
function as diagnostic tests.
In April 2017 FDA authorized 23andMe to market genetic HEALTH RISK tests for 10
specific multifactorial conditions (Parkinson disease, Alzheimer disease, celiac
disease, alpha-1-antitrypsin, early-onset primary dystonia, factor XI deficiency,
Gaucher type I, glucose-6-phosphate dehydrogenase def’y, hereditary
hemochromatosis, hereditary thrombophilia.
The risk assessment of these 10 diseases is based on the presence or absence of a
limited list of genetic variants in the sample, which are statistically higher in
affected vs healthy cohorts but not necessarily causal of the conditions because
additional environmental and lifestyle factors affect risk.
None of the genes associated with these conditions are comprehensively
sequenced or analyzed in DTC tests NOR do the tests include all of the genes that
have been associated with these conditions.
7. Example of DTC Gene Risk Analysis
23andMe’s genetic health risk test for Parkinson disease reports on
just ONE variant in each of two genes, LRRK2 and GBA, linked to this
disorder.
There are additional known pathogenic variants in these two genes
They do not report out on other genes known to be linked to Parkinson
disease such as SNCA and PARK2/PARKIN.
The consumer is not provided with a comprehensive genetic risk
assessment.
In contrast, diagnostic tests are comprehensive with analysis of the
full coding sequences of all genes associated with that disease and the
results are used by the provider to guide disease management or
surveillance.
8. Raw Data Analysis
Although the FDA prohibits most DTC companies from offering diagnostic
genetic tests, some companies provide their raw genotyping data if
requested.
Patients can access interpretation services for their raw genotyping data
through fee-for-service third party companies.
A study in 2017 reviewing third party companies found they operate by
querying publicly available databases, despite reports that the majority of
classifications in some of these databases is incorrect resulting in, for
example, the interpretation of single nucleotide polymorphisms as pathogenic
when they may be VUS, likely benign variants, and benign polymorphisms. In
addition, these companies are providing information to the consumer with the
assumption that these variants in the raw data they are interpreting are
actually true abnormalities in the first place and not false positives. Badalato et
al. Eur J Hum Genet 2017;25:1189-1194
9. 23andme Statement on Testing Clinical
Utility
They made the following statement regarding the clinical
utility of their DTC testing:
“The test is not intended to tell you anything about your current state of
health, or to be used to make medical decisions, including whether or
not you should take a medication, how much of a medication you should
take, or determine any treatment… These carrier reports are not
intended to tell you anything about your risk for developing a disease in
the future, the health of your fetus, or your newborn child’s risk of
developing a particular disease later in life.”
10. Ambry Genetics DTC Testing Study – Tandy-
Connor, et al; Genetics in Medicine;2018;20(12):1515-1521
Analyzed variants previously identified by DTC testing and raw data analysis
in 49 patients between January 2014 and December 2016.
91.8% of patients were female; 73.5% unaffected by disease; 53.1% aged 30-
49 years.
In 44.9% of cases, single-site analysis was ordered to confirm DTC raw data
findings; 87.8% was testing of cancer genes,8.2% in CF genes, and 2% each in
connective tissue disorders and Familial Mediterranean Fever genes.
Overall, 60% of the variants were confirmed while 40% were false positives,
the latter most commonly found in the breast cancer BRCA1/2 genes.
Misclassification of variants by the third party interpretation service, some of
which were variants found in the general population at frequencies too high
to be associated with disease (one BRCA2 gene variant is found in about 25%
of the general population).
11. Lessons Learned
Alarmingly high false positive rate
High incidence of discrepant classification/misinterpretation of variants
coming from DTC companies and/or third-party interpretation services.
It is critical that clinical confirmatory testing be performed on any variants
reported in the raw data provided by a DTC company prior to any changes in
medical management to confirm the presence of that variant in the individual
as well as an accurate classification.
Many DTC genetic tests do not include comprehensive gene analysis.
Genetic testing needs to be interpreted by a qualified health-care
professional in the context of several other factors to include personal and
family medical history.
12. My Biggest Concern
The Ambry study data was generated on 49
patients whose providers knew enough to
refer for additional testing. How many
people are out there with false positive data
making poor decisions for themselves and
their families based on inaccurate
information?
13. American Society of Human Genetics
Statement on DTC Testing
“Because of the fragmented regulatory environment for genetic testing in general,
there is concern that the quality of the tests offered DTC may be inadequate. For a
test to be of good quality, the laboratory performing it must be able to obtain the
correct answer reliably, meaning that it detects a particular genetic variant when it is
present and does not detect the variant when it is absent. A test’s accuracy is
referred to as “analytic validity”. Further, there must be adequate scientific evidence
to support the correlation between the genetic variant and a particular health
condition or risk – the so-called clinical validity.”
“Claims made regarding DTC genetic tests may is some cases be exaggerated or
unsupported by scientific evidence. Exaggerated or unsupported claims may lead
consumers to get tested inappropriately or to have false expectations regarding the
benefits of testing. Further, consumers may make unwarranted, and even
irrevocable, decisions on the basis of test results and associated information, such as
the decision to terminate a pregnancy, to forgo needed treatment, or to pursue
unproven therapies.”
14. American College of Medical Genetics
Comment on DTC Testing
“Due to the complexities of genetic testing and
counseling, the self-ordering of genetic tests by
patients over the telephone or the Internet, and
their use of genetic “home testing” kits, is
potentially harmful. Potential harms include
inappropriate test utilization, misinterpretation of
test results, lack of necessary follow-up, and other
adverse consequences.”
15. NIH Concerns for DTC Testing
Statement from the National Institutes of Health (NIH):
“DTC genetic testing may promote awareness of genetic diseases, allow
consumers to take a more proactive role in their health care, and offer a means for
people to learn abut their ancestral origins.” However, “consumers are vulnerable
to being misled by the results of unproven or invalid tests” and “may make
important decisions about treatment or prevention based on inaccurate, incomplete
or misunderstood information about their health.”
16. Federal Concerns for DTC Testing
On November 28, 2017, Senator Chuck Shumer called on the Federal Trade Commission
(FTC) to regulate consumer DNA testing
Schumer cautions that these test kits put consumer privacy at risk because DNA firms could
potentially sell personal and genetic information. Now Schumer is calling on the Federal Trade
Commission to investigate and ensure that the privacy policies are clear, transparent, and fair
to consumers, according to a statement released by Schumer’s office.
“When it comes to protecting consumers’ privacy from at-home DNA test kit services, the
federal government is behind,” Schumer said. “Besides, putting your most personal genetic
information in the hands of third parties for their exclusive use raises a lot of concerns, from the
potential for discrimination by employers all the way to health insurance. That's why I am asking
the Federal Trade Commission to take a serious look at this relatively new kind of service and
ensure that these companies have clear, fair privacy policies and standards for all kinds of at-
home DNA test kits. We don't want to impede research but we also don't want to empower
those looking to make a fast buck or an unfair judgement off your genetic information. We can
find the right balance here, and we must.” Ref Mobihealth News