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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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362 hot topic(s) found with the query "Consumer or personal genomics"

Future implications of polygenic risk scores for life insurance underwriting.
Tatiane Yanes et al. NPJ Genom Med 2024 3 (1) 25 (Posted: Apr 01, 2024 9AM)

From the abstract: "As PGS is increasingly utilized in research and clinical practice, it is pivotal that careful consideration is given to the potential insurance implications of PGS to ensure consumer protection against GD. For the full potential benefits of PGS to be realized, and its clinical utility determined across various use cases, individuals will need to be confident that they can participate in research studies and access clinical genetic testing without fear of insurance discrimination. Clarification is needed regarding the extent to which existing protections and legislation relating to monogenic testing may also extend to PGS test results. "

The DTC microbiome testing industry needs more regulation.
Diane E Hoffmann et al. Science 2024 3 (6688) 1176-1179 (Posted: Mar 23, 2024 6AM)

From the article: "A growing body of research has suggested the potential for improving human health by better understanding the human microbiome. This research has led to the emergence of a global industry selling direct-to-consumer (DTC) microbiome testing services. Regulation of this industry has been generally ignored despite its having made a mark on the lifestyle health and wellness market. Yet companies’ claims of having the ability to detect “abnormal” microbiomes are not substantiated by research; the testing processes lack analytical validity, and the results have no demonstrated clinical validity. "

Direct to Consumer Biomarker Testing for Alzheimer Disease—Are We Ready for the Insurance Consequences?
JJ Arias et al, JAMA Neurology, December 18, 2023 (Posted: Dec 18, 2023 0PM)

From the article: "The promise of DTC testing for AD biomarkers may be lauded by advocates pushing for earlier diagnoses and individuals’ right to know. Early diagnosis of AD through DTC or clinical evaluations could provide benefits, including increased monitoring and preventive care. Additionally, DTC tests could reduce barriers that impede a timely diagnosis (eg, access to dementia specialists). However, DTC tests are not without hazard, particularly given gaps in discriminatory protections for individuals at risk of developing AD with known biomarker status. "

An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks.
Hannah G Kirby et al. Mayo Clin Proc 2023 8 (Posted: Aug 29, 2023 11AM)

From the abstract: "An environmental scan was conducted to identify germline genetic testing companies that offer testing for at least one diagnosable health condition and are available for purchase by consumers in the US market without a visit to one's health care provider. We characterized variability in the content and processes used by 21 companies offering 74 distinct test products that met our inclusion and exclusion criteria. A minority (8 of 21 companies) offered tests that assessed the presence of at least 1 US Centers for Disease Control and Prevention Tier 1 condition for which detection can impact an individual's clinical care and for which evidence-based guidelines for detection and management exist."

Curious about your cancer risk, or if your child might develop learning disabilities? There’s a genetic test for that—but it may not be accurate
E Prater, Fortune Well, July 2023 (Posted: Aug 18, 2023 8AM)

A new wave of expanded genetics tests is flooding the market—social media feeds, at least—and complicating matters. Some promise to predict the gender of your baby, your child’s predisposition to learning disabilities, how specific medications might interact with your genetics, and even how prone you are to developing ear wax. Not all information provided by such tests is useful or accurate. And not all of the accurate information can be acted upon, experts caution. Often, disease can’t be prevented.

Regulating Direct-to-Consumer Polygenic Risk Scores
JS Sherkow et al, JAMA, August 3, 2023 (Posted: Aug 03, 2023 6PM)

PGSs are available to consumers both through typical direct-to-consumer (DTC) genetic tests, where the consumer provides a genetic sample to be sequenced and analyzed by a company or as pure software, where consumers upload their previously sequenced genetic data to be analyzed. Although the US Food and Drug Administration (FDA) actively regulates DTCs, many DTC-PGSs evade regulatory scrutiny as general wellness products or unregulated software over which the FDA declines to exercise enforcement.

Assessing the general public's view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages.
Madison Ruehl et al. Eur J Hum Genet 2023 6 (Posted: Jun 20, 2023 7AM)

The general public continues to show increased interest and uptake of Direct-to-Consumer (DTC) genetic testing. We conducted an online survey (N?=?405) to assess genetics knowledge, interest, and outcome expectancy of DTC genetic testing before and after exposure to a sample DTC disclaimer message. Increased genetic knowledge and more positive attitudes towards DTC genetic testing were associated with increased self-reported systematic processing of the DTC disclaimer message. Further, self-reported systematic processing of the DTC disclaimer message was associated with greater interest in pursuing DTC genetic testing but did not predict outcome expectancies.

Direct-to-Consumer Genetic Testing
NHGRI, June 2023 Brand (Posted: Jun 05, 2023 10AM)

The Direct-to-Consumer Genetic Testing (DTC-GT) Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics has created a DTC-GT Frequently Asked Questions (FAQ) resource designed for the general clinician who may see patients requesting guidance on DTC-GT. This FAQ is intended to help healthcare professionals understand the diverse landscape of DTC-GT, the benefits and limitations of these tests and how results of DTC-GT may affect their patients’ health, wellness and medical decision making.

Polygenic Scores in the Direct-to-Consumer Setting: Challenges and Opportunities for a New Era in Consumer Genetic Testing
JK Park et al, J Per Med, March 23, 2023 (Posted: Mar 23, 2023 7AM)

While PGS have thus far been extensively explored as clinical and public health tools, the use of PGS in consumer genetic testing has not yet received systematic attention, even though they are already in use for some consumer genetic tests. In this narrative review, we highlight the ethical, legal, and social implications of the use of PGS in DTC genetic tests and synthesize existing solutions to these concerns.

Physicians in the era of technology-enabled diagnostics.
Rashmee U Shah et al. Nature reviews. Cardiology 2023 1 (Posted: Feb 02, 2023 6AM)

Health-care delivery is evolving, with an increased availability of consumer and medical technology-enabled diagnostic devices powered by artificial intelligence. Physicians need to evolve by deprioritizing old skills in favour of new skills in statistics and medical decision-making psychology. Technology moves fast; physicians will need to pivot and adapt quickly.

Clinical Cancer and Direct-to-Consumer Genetic Test Result-Sharing Behavior: Findings from HINTS 2020
S Makhnoon et al, J Per Med, December 21, 2022 (Posted: Dec 22, 2022 9AM)

Using nationally representative population-based data collected from the Health Information National Trends Survey, we identified the prevalence and factors associated with genetic test result-sharing behavior for high-risk cancer tests, genetic health risk tests, and ancestry tests. Overall, 68.4% of those who underwent high-risk cancer genetic testing shared their results with FDRs, whereas 89.9% shared with HCP/GCs. Women were nine times more likely than men to share, and those with a personal history of cancer were less likely to share with HCP/GCs. Of those tested for genetic health risk, 66.5% shared with HCP/GCs, 38.7% with FDRs, 66.6% with a spouse/partner, 12.8% with a friend, and 14.1% did not share results with anyone.

The PrU: development and validation of a measure to assess personal utility of genomic results
E Turbitt et al, Genetics in Medicine, December 12, 2022 (Posted: Dec 12, 2022 9AM)

We used an evidence-based, operational definition of personal utility, with data from a systematic literature review and Delphi survey to build a novel scale. Following piloting with 24 adults, the PrU was administered to healthy adults in a Clinical Sequencing Evidence-Generating Research Consortium (CSER) study after receiving results. We investigated responses using exploratory factor analysis.

AI detection of cardiac dysfunction from consumer watch ECG recordings
Nature Medicine, November 14, 2022 (Posted: Nov 15, 2022 7AM)

To enable large-scale screening for left ventricular dysfunction — a serious and under-detected cardiac disease — we applied artificial intelligence to electrocardiograms recorded by patients using their own Apple watches in a prospective, digital, remote study. We found that patients engaged with the system and that the watch electrocardiograms effectively screened for the disease.

Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022 (Posted: Nov 07, 2022 8AM)

Genetic counsellors and other healthcare providers, along with consumer and community groups, have a central role in leading the discussion that is needed prior to implementing reproductive genetics carrier screening (RGCS). Drawing on relevant clinical perspectives can inform the development and implementation of ethically robust offerings of RGCS that go some way towards responding to the societal ethical concerns identified in a recent review.

A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website.
Lowes Kiara et al. European journal of human genetics : EJHG 2022 10 (Posted: Oct 18, 2022 7AM)

Using interpretive description, we developed a theoretical model describing the experience of receiving PRSs in a direct-to-consumer (DTC) context. Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed and experiencing medical distrust, which drove them to self-advocate for their health, which ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants but could be distressing when PRS information did not align with participants' perceptions of their personal or family histories.

Direct-to-consumer genetic testing in the news: a descriptive analysis.
Basch Corey H et al. Journal of community genetics 2022 10 (Posted: Oct 16, 2022 7AM)

Only 10.0% of online news articles mentioned testing confidentiality and privacy protection. Articles that mentioned?>?5 commercial DTC DNA products more often discussed how DTC DNA testing provides personalized information about health and link to family disease risk and other traits (85.7% vs. 61.1%, p?=?0.02), can lead to the location of family members or ancestors (78.6% vs. 55.63%, p?=?0.03), and that the testing results housed in DNA databases can be utilized by law enforcement to track suspects or their relatives.

Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns
MF Martins et al, EJHG, October 12, 2022 (Posted: Oct 12, 2022 8AM)

Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals’ knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review.

A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website
K Lowes et al, EJHG, October 4, 2022 (Posted: Oct 04, 2022 8AM)

Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed and experiencing medical distrust, which drove them to self-advocate for their health, which ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants but could be distressing when PRS information did not align with participants’ perceptions of their personal or family histories.

Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing.
Ziegler Emily et al. Public health genomics 2022 9 1-10 (Posted: Sep 29, 2022 8AM)

This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities’ use of data and more reference to community engagement.

Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation.
Hollister Brittany M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 (Posted: Sep 05, 2022 6AM)

Medical students (N = 84) were randomized to a simulated primary care encounter with a Black or White virtual reality–based patient and received either a direct-to-consumer–style PRS report for 5 common complex conditions or control information. When medical students received PRSs, they rated the patient as less healthy and requiring more strict advice. Patterns suggest that PRSs influenced specific medical recommendations related to the patient’s concerns, despite student reports that participants did not use it for that purpose.

The Progress and Future of US Newborn Screening
MS Watson et al, IJNS, July 20, 2022 (Posted: Jul 21, 2022 7AM)

Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and policies. With the current explosion of clinical trials of treatments for rare diseases, the pressure for expansion has grown, and concerns about the capacity for improvement and growth are being expressed. Genome and exome sequencing (GS/ES) have now opened more opportunities for early identification and disease prevention at all points in the lifespan.

Multinational landscape of health app policy: toward regulatory consensus on digital health
JA Diao et al, NPJ Digital Medicine, May 11, 2022 (Posted: May 11, 2022 7AM)

Due to its enormous capacity for benefit, harm, and cost, health care is among the most tightly regulated industries in the world. But with the rise of smartphones, an explosion of direct-to-consumer mobile health applications has challenged the role of centralized gatekeepers. As interest in health apps continue to climb, national regulatory bodies have turned their attention toward strategies to protect consumers from apps that mine and sell health data, recommend unsafe practices, or simply do not work as advertised.

Consumer-grade wearables identify changes in multiple physiological systems during COVID-19 disease progression
C Mayer, et al, Cell Reports and Medicine, April 19, 2022 (Posted: Apr 21, 2022 7AM)

Consumer-grade wearables are needed to track disease, especially in the ongoing pandemic, as they can monitor patients in real time. We show that decomposing heart rate from low-cost wearable technologies into signals from different systems can give a multidimensional description of physiological changes due to COVID-19 infection. We find that the separate physiological features of basal heart rate, heart rate response to physical activity, circadian variation in heart rate, and autocorrelation of heart rate are significantly altered and can classify symptomatic versus healthy periods. Increased heart rate and autocorrelation begin at symptom onset, while the heart rate response to activity increases soon after symptom onset and increases more in individuals exhibiting cough. Symptom onset is associated with a blunting of circadian variation in heart rate, as measured by the uncertainty in the phase estimate.

Detection of COVID-19 using multimodal data from a wearable device: results from the first TemPredict Study
AE Mason et al, Scientific Reports, March 2, 2022 (Posted: Mar 02, 2022 2PM)

Early detection of diseases such as COVID-19 could be a critical tool in reducing disease transmission by helping individuals recognize when they should self-isolate, seek testing, and obtain early medical intervention. Consumer wearable devices that continuously measure physiological metrics hold promise as tools for early illness detection. We gathered daily questionnaire data and physiological data using a consumer wearable (Oura Ring) from 63,153 participants, of whom 704 self-reported possible COVID-19 disease.

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease
S Best, et al, EJHG, January 20, 2022 (Posted: Jan 20, 2022 7AM)

We undertook a systematic review searching for articles relating to geographical access to genetic/genomic services for rare disease. Searching the databases Medline, EMBASE and PubMed returned 1803 papers. Screening led to the inclusion of 20 articles for data extraction. Using inductive thematic analysis, we identified four themes (i) Current service model design, (ii) Logistical issues facing clinicians and communities, (iii) Workforce capacity and capability and iv) Rural culture and consumer beliefs.

Genomic health data generation in the UK: a 360 view
E Ormondroyd et al, EJHG, October 19, 2021 (Posted: Oct 19, 2021 6AM)

In the UK, genomic health data is being generated in three major contexts: the healthcare system (based on clinical indication), in large scale research programs, and for purchasers of direct-to-consumer genetic tests. The recently delivered hybrid clinical/research program, 100,000 Genomes Project set the scene for a new Genomic Medicine Service, through which the National Health Service aims to deliver consistent and equitable care informed by genomics, while providing data to inform academic and industry research and development. In parallel, a large scale research study, Our Future Health, has UK Government and Industry investment and aims to recruit 5 million volunteers to support research intended to improve early detection, risk stratification, and early intervention for chronic diseases.

New Study Shows the Inaccuracy of At-Home Genetic Tests
AE Toland, Oncology Times, July 26, 2021 (Posted: Jul 28, 2021 8AM)

It's easy to understand the appeal of at-home genetic testing. These direct-to-consumer (DTC) tests promise a quick, cheap, and easy alternative to clinical testing labs and a fascinating piece of modern technology. But when people use at-home genetic tests, they expect them to be accurate, and that's not always the case. In fact, a new study sheds more light on this topic, indicating that at-home testing isn't just unreliable, it may be just as likely to yield an inaccurate result as an accurate one.

Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?
L Peck et al, EJHG, July 18, 2021 (Posted: Jul 20, 2021 7AM)

We sought to explore individuals’ motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a cross-sectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs.

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG Board of Directors, Genetics in Medicine, June 28, 2021 (Posted: Jun 28, 2021 7AM)

While the issues surrounding direct-to-consumer testing for monogenic disease or disease caused by copy-number variants are complicated, they are even more complex for disorders that exhibit polygenic inheritance. As a result of increasing data points, the need for interpretation of and counseling about any type of genetic testing regarding these disorders has become exponentially more complex, and in most instances, is not a part of general clinical genetics practice. In this context, the emergence of direct-to-consumer testing for multi/polygenic diseases is particularly troubling.

Knowing More Than the Knowns in Familial Hypercholesterolemia
P Natarajan et al, JAMA Cardiology, May 26, 2021 (Posted: May 27, 2021 7AM)

A negative FH test result from direct-to-consumer array platforms is limited by reduced sensitivity to detect rare variants and poor curation of recurrent non-European mendelian variants. When FH is strongly clinical suspected, even if array-based FH reporting has negative results, a clinical genetic test should still be considered.

Wearable sensors enable personalized predictions of clinical laboratory measurements
J Dunn et al, Nature Medicine, May 24, 2021 (Posted: May 25, 2021 7AM)

We examined whether vital signs as measured by consumer wearable devices (that is, continuously monitored heart rate, body temperature, electrodermal activity and movement) can predict clinical laboratory test results using machine learning models, including random forest and Lasso models. Our results demonstrate that vital sign data collected from wearables give a more consistent and precise depiction of resting heart rate than do measurements taken in the clinic

Direct-to-consumer personal genomic tests need better regulation
O Moneer et al, Nature Medicine, May 20, 2021 (Posted: May 21, 2021 0PM)

Increasingly, data are collected by companies that provide direct-to-consumer personal genomic tests, yet the existing health legislation covering the use of these data is lagging far behind in the USA.In this Comment, we provide an overview of the regulation of genetic data and we highlight major events that illustrate gaps in regulatory oversight.

Laboratory business models and practices: implications for availability and access to germline genetic testing
MT Scheuner et al, Genetics in Medicine, May 6, 2021 (Posted: May 06, 2021 0PM)

Continued availability of, and access to germline testing will depend on the financial success of laboratories; organizational characteristics of laboratories and payers; cultural factors, particularly consumer interest and trust; and societal factors, such as regulation and laws surrounding pricing and reimbursement.

The Role of Genetic Testing for Parkinson's Disease.
Cook Lola et al. Current neurology and neuroscience reports 2021 21(4) 17 (Posted: Mar 12, 2021 9AM)

Despite growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase.

A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis.
Koop Andree H et al. Clinics and research in hepatology and gastroenterology 2021 101658 (Posted: Mar 09, 2021 9AM)

Complicated legacies: The human genome at 20
CM Jones et al, SCience, February 4, 2021 (Posted: Feb 05, 2021 7AM)

Millions of people today have access to their personal genomic information. Direct-to-consumer services and integration with other “big data” increasingly commoditize what was rightly celebrated as a singular achievement in February 2001 when the first draft human genomes were published. But such remarkable technical and scientific progress has not been without its share of missteps and growing pains.

Assessment of physiological signs associated with COVID-19 measured using wearable devices
A Natarjan et al, NPJ Digital Medicine, November 30, 2020 (Posted: Nov 30, 2020 10AM)

Respiration rate, heart rate, and heart rate variability (HRV) are some health metrics that are easily measured by consumer devices. Furthermore, mobile applications that accompany wearable devices can be used to collect relevant self-reported symptoms and demographic data. This makes consumer devices a valuable tool in the fight against the COVID-19 pandemic. This study reports on predictive ability of these tools in tracking the course of illness and need for hospitalization.

Harnessing consumer smartphone and wearable sensors for clinical cancer research
CA Low, NPJ Digital Medicine, October 27, 2020 (Posted: Oct 28, 2020 8AM)

Over the past few years, small studies across a variety of cancer populations support the feasibility and potential clinical value of mobile sensors in oncology. Barriers to implementing mobile sensing in clinical oncology care include the challenges of managing and making sense of continuous sensor data, patient engagement issues, difficulty integrating sensor data into existing electronic health systems and clinical workflows, and ethical and privacy concerns.

A digital health intervention for cardiovascular disease management in primary care (CONNECT) randomized controlled trial
J Redfern et al, NPJ Digital Medicine, September 10, 2020 (Posted: Sep 11, 2020 7AM)

Digital health applications have the potential to improve health behaviors and outcomes. We aimed to examine the effectiveness of a consumer web-based app linked to primary care electronic health records. CONNECT was a multicenter randomized controlled trial involving patients with or at risk of cardiovascular disease recruited from primary care.

Artificial Intelligence and Machine Learning
JNCI, 2020 (Posted: Sep 01, 2020 8AM)

Explore a collection from JNCI on machine learning and artificial intelligence in medicine, featuring articles from the Journal of Consumer Research and JNCI Cancer Spectrum.

Privacy challenges and research opportunities for genomic data sharing
L Bonomi et al, Nature Genetics, June 29, 2020 (Posted: Jun 30, 2020 9AM)

In this work, we provide an overview of major privacy threats identified by the research community and examine the privacy challenges in the context of emerging direct-to-consumer genetic-testing applications. We additionally present general privacy-protection techniques for genomic data sharing and their potential applications.

Startups touting at-home coronavirus tests suspend plans after FDA warning
E Brodwin, Stat News, March 24, 2020 (Posted: Mar 25, 2020 10AM)

In a rapid about-face, a handful of startups that had already rolled out at-home coronavirus test kits or planned to start selling them soon have suspended their efforts. It’s the latest twist in an ongoing situation that has unfolded as tech companies have rushed to fill testing gaps with direct-to-consumer kits — and as regulators have rushed to wrangle them.

The future of sleep health: a data-driven revolution in sleep science and medicine
NPJ Digital Medicine, March 23, 2020 (Posted: Mar 24, 2020 6AM)

We introduce the state-of-the-art in sleep-monitoring technologies, and discuss the opportunities and challenges from data acquisition to the eventual application of insights in clinical and consumer settings. Further, we explore the strengths and limitations of current and emerging sensing methods with a particular focus on novel data-driven technologies.

Consumer Genomic Testing in 2020
WG Feero et al, JAMA, March 19, 202-0 (Posted: Mar 20, 2020 9AM)

This Viewpoint discusses gaps between the growth of direct-to-consumer genomic testing and knowledge about how best to use the information, highlighting the absence of diversity in genetic databases, the scarcity of accompanying genetic counseling, and data security and privacy concerns.

Direct-to-Consumer Nutrigenetics Testing: An Overview.
Floris Matteo et al. Nutrients 2020 Feb 12(2) (Posted: Mar 04, 2020 9AM)

In this article, we analyze the online nutrigenetics services offered by 45 companies worldwide, to obtain an overall picture of the costs, the types of nutritional traits considered and the level of scientific precision of the services proposed.

Annual DNA Day Essay Contest
ASHG, 2020 (Posted: Feb 25, 2020 9AM)

2020 Question: Ancestry testing is a form of direct-to-consumer genetic testing designed to inform customers about their genetic ancestry. There are three types of testing: Y chromosome testing, mitochondrial DNA testing, and autosomal DNA testing. If a person did all three ancestry tests, what types of information could they learn?

Direct-to-consumer testing: a clinician’s guide
Genomics Education Program, January 2020 (Posted: Feb 23, 2020 0PM)

In the second of this week’s articles on DTC genetic tests, guest author Dr Rachel Horton explains some of the common pitfalls and the key points clinicians need to know.

Consumer genetic testing: expectation and reality
Genomics Education Program, January 2020 (Posted: Feb 23, 2020 0PM)

‘Direct-to-consumer’ (DTC) genetic tests – those available for purchase by any member of the public – continue to grow in popularity. In the first of two articles on the subject, we explore new research that shines a light on the pitfalls of our new favorite pastime.

Why DNA tests are suddenly unpopular
R Molla, VOX, February 2020 (Posted: Feb 21, 2020 9AM)

The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests Either Too Narrow or Too Broad
MK Kilbride et al, JAMA, February 20, 2020 (Posted: Feb 20, 2020 9AM)

Direct to consumer genetic tests lack clinical utility for different reasons. Narrow tests are often incomplete, and only include a limited number of relevant variants.1 Broad tests, by contrast, are concerning because they often include genes for which well-established risk estimates, medical management guidelines, or both may be absent.

Your DNA is a valuable asset, so why give it to ancestry websites for free?
L Spinney, the Guardian, February 2020 (Posted: Feb 17, 2020 10AM)

Genetic Ancestry Testing-What Is It and Why Is It Important
LB Jorde et al, JAMA, February 14, 2020 (Posted: Feb 15, 2020 9AM)

Genetic ancestry testing can provide insights on the geographic origins of an individual’s ancestors, as well as some information that can aid in assessment of risk for some heritable conditions. The accuracy of testing is limited by the migrations and mixing of populations over time. Unexpected findings can have psychosocial consequences.

The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
Dinulos Mary Beth Palko et al. Clinics in laboratory medicine 2020 Mar 40(1) 61-67 (Posted: Feb 12, 2020 10AM)

Lessons Learned from Direct-to-Consumer Genetic Testing.
Petersen Lauren M et al. Clinics in laboratory medicine 2020 Mar 40(1) 83-92 (Posted: Feb 12, 2020 10AM)

Is There A Doctor in The House? Physician-Mediated DTC Genetic Testing
K Stoll, the DNA Exchange, January 16, 2020 (Posted: Jan 17, 2020 8AM)

What does the movement towards a growing number of these types of DTC testing options mean for the field of medical genetics? Perhaps people will have greater access to genetic testing. But will the information received through these tests improve people’s health? Or will they lead to people receiving inaccurate, incomplete or misunderstood information?

Consumer genetic testing: What do you get for your money?
D Garde, Stat News, January 14, 2020 (Posted: Jan 15, 2020 8AM)

Companies offer a wide range of services, such as decoding ancestry and predicting disease risk. But we still don’t know what a lot of the human genome is for — so even though you’ll get a bunch of data, it might not actually be that useful as of yet.

Attacks on genetic privacy via uploads to genealogical databases
MD Edge et al, elife, January 7, 2020 (Posted: Jan 10, 2020 8AM)

Direct-to-consumer genetics services are increasingly popular, with tens of millions of customers. Several genealogy services allow users to upload genetic data to search for relatives, identified as people with genomes that share identical by state regions. We describe methods by which an adversary can learn database genotypes by uploading multiple datasets.

Introducing the Personal Genomics Podcast
NCI, January 2020 Brand (Posted: Jan 08, 2020 8AM)

The Personal Genomics podcast will bring you researchers’ voices as they describe the funny, intimate, and consequential moments of their lives that are usually left out of scientific publications. And if you’re a researcher, we hope you’ll consider sharing your story, too.

Opening Pandora’s Box of a family’s medical secrets: ‘As hard as it is knowing, not knowing is much worse’
A Keshner, Market Watch, January 2020 (Posted: Jan 04, 2020 2PM)

Such results can unleash all sorts of difficult medical questions about further verification, treatment and possible surgery. Those same results can also force personal dilemmas: With whom should users share surprising or unwelcome medical results? And how do they break such news?

Be Ready to Talk With Parents About Direct-to-Consumer Genetic Testing
EW CLayton, JAMA Pediatrics, December 30, 2019 (Posted: Dec 31, 2019 9AM)

Perhaps this has already happened to you. You are seeing a school-aged girl for general health maintenance, and her parents say, “We had our child tested by 23andMe and found that she is at risk for developing HFE-related hemochromatosis. What should we do?”

Why The Pentagon Is Warning US Military Not To Use Recreational Genetic Test Kits
E Matloff, Forbes, December 27, 2019 (Posted: Dec 29, 2019 8AM)

For years, many of us in the genetics community have strongly suggested that consumers think long and hard before ordering recreational genetic test kits for Christmas – or any other occasion.

Should You Take a Direct-to-Consumer DNA Test?
L Konkel, UCSF, December 2019 (Posted: Dec 27, 2019 5PM)

Many of these tests are geared more toward entertainment than clinical use. They report heritable traits like cheek dimples, earlobe type, and eye color, which may be fun but are not clinically important. They can also offer clues about disease risk, but such information is just a starting point.

Artificial Intelligence Is Rushing Into Patient Care - And Could Raise Risks
L Szabo, Scientific American, December 2019 (Posted: Dec 25, 2019 0PM)

AI systems are not as rigorously tested as other medical devices, and have already made serious mistakes. Many health industry experts fear AI-based products won’t be able to match the hype. Many doctors and consumer advocates fear that the tech industry, which lives by the mantra “fail fast and fix it later,” is putting patients at risk

Pentagon Warns Military Personnel Against At-Home DNA Tests
H Murphy et al, NY Times, December 2019 (Posted: Dec 25, 2019 0PM)

The tests, from companies have become popular holiday gifts, but the military is warning service members of risks to their careers.In an internal memo, Pentagon leadership has urged military personnel not to take mail-in DNA tests, warning that they create security risks, are unreliable and could negatively affect service members’ careers.

What Does It Mean When Everyone Can Get Their DNA Sequenced?
K Miller, Discover, December 22, 2019 (Posted: Dec 23, 2019 3PM)

DTC companies don’t conduct clinical testing, so their labs don’t have to meet the same strict federal standards as medical facilities. The companies typically post disclaimers stating that their products are not for medical use. Yet more and more patients are asking physicians for advice based on DTC test results, leading doctors into largely uncharted territory.

What You’re Unwrapping When You Get a DNA Test for Christmas
H Murphy, NY Times, December 22, 2019 (Posted: Dec 22, 2019 6PM)

So what do these developments mean for that DNA kit sitting under your Christmas tree? Men’s Journal calls them “one of the hottest gifting ideas,” and US Weekly promises that “they’re going to love it, no matter how tough of a critic they are.” But is using one of these kits also opening the door to letting the police use your DNA to arrest your cousin?

Should You Give the Gift of a Genetic Testing Kit?
C Roberts, Consumer Reports, December 2019 (Posted: Dec 17, 2019 6AM)

If you’ve been searching for holiday gifts for friends and family, you might have considered the possibility of getting someone a direct-to-consumer (DTC) genetic testing kit—the kind where you spit into a tube, mail it off, and receive insights about your relatives, your ancestry, and even your health.

We’re Living In The DNA Future, But It’s Not The One We Were Promised
P Aldhous, Buzzfeed, December 11, 2019 (Posted: Dec 12, 2019 8AM)

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

Consumer (dis-)interest in Genetic Ancestry Testing: The roles of race, immigration, and ancestral certainty.
Horowitz Adam L et al. New genetics and society 2019 38(2) 165-194 (Posted: Dec 11, 2019 9AM)

Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.
De Suchetana et al. Public health genomics 2019 Nov 1-12 (Posted: Dec 04, 2019 9AM)

The complex structure of the websites made it difficult to find all key information, with many important aspects buried in legal documents, which were challenging to comprehend even for a professional. The structure of the websites and the amount and quality of the content therein do not support a well-informed decision.

A Reporter Took DNA Tests in the U.S. and China. The Results Left Her Worried
KA Ha, et al, Bloomberg, November 30, 2019 (Posted: Dec 02, 2019 8AM)

Spitting into the plastic test tube, I felt nervous. I was offering up a piece of myself for decoding, and it reminded me of a visit to a fortune teller when I was 21. Then, I offered the palm of my hand in a bid to divine what fate had planned for me. Now, it was DNA, with my saliva destined for a laboratory in China.

Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals
BMC Health Services Research, November 25, 2019 (Posted: Nov 27, 2019 5AM)

In this national survey, specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable.

The job of a genetic counselor: Interpret, inform and support
M Chiu, Baylor medicine blog, November 2019 (Posted: Nov 18, 2019 9AM)

Direct-to-consumer genetic tests have made genetics readily available to the public. All it takes is a sample of blood or saliva, and its DNA can be tested for genetic markers. But when there is an increased risk identified, the report is rarely the end of the story. A visit with a genetic counselor can help you get a better idea of what the results mean.

At-Home DNA Tests Still Need the ‘Human Touch,’ Say Panelists at Genomics Roundtable Workshop
NS Miceli, ASEM workshop, November 13, 2019 (Posted: Nov 14, 2019 8AM)

Direct to consumer genetic tests still need the "human touch': @NASEM_Health workshop speakers recognize the challenges of integrating consumer genomics data into clinical care.

2020 Question (Ancestry Testing)
ASHG, November 2019 (Posted: Nov 07, 2019 8AM)

Ancestry testing is a form of direct-to-consumer genetic testing designed to inform customers about their genetic ancestry. If a person did ancestry tests, what types of information could they learn about their genetic ancestry and how does this genetic ancestry information compare and contrast with their cultural heritage.

GPs are advised to ignore genetic test results that have no clinical basis
E Mahase, BMJ, November 2019 (Posted: Nov 07, 2019 8AM)

GPs should “not take at face value, or attempt to interpret” reports from direct to consumer genetic tests, according to the Royal College of General Practitioners. The college warned that there is a “very high chance of false positive or false negative results” from DTC genetic tests and “significant costs in confirming (or more often refuting)” the results.

Position Statement on Direct to Consumer Genetic Testing
Royal College of General Practitioners, November 2019 (Posted: Nov 07, 2019 7AM)

Testing for Honesty
L Schlager, Cure, October 2019 (Posted: Oct 28, 2019 2PM)

There is a flood of information about genetic tests for cancer risk being offered in the media and even at senior centers, churches and community fairs. If these promotions have caught your attention, consider some key facts before you pursue genetic testing.

Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia
J Charbonneau et al, EJHG, October 23, 2019 (Posted: Oct 24, 2019 8AM)

little is known about how the general public view and might engage DTCGT outside traditional health care systems. This is first empirical study to investigate general public views across four countries, each at different stages of market development. US (n?=?1000), UK (n?=?1014), Japanese (n?=?1018) and Australian (n?=?1000)

Direct-to-consumer genetic testing
R Horton et al, BMJ, October 16, 2019 (Posted: Oct 17, 2019 9AM)

Finding a “health risk” via DTC genetic testing often does not mean that a patient will develop the health problem in question. DTC genetic tests might report false positives. “Reassuring” results from DTC tests might be false negatives.If your patient meets criteria for referral to clinical genetics, refer regardless of the results of their DTC genetic test.

Exploring the Current Landscape of Consumer Genomics - A Workshop
NASEM workshop, October 29, 2019 (Posted: Sep 30, 2019 9AM)

The Roundtable on Genomics and Precision Health will host a public workshop on October 29, 2019 to explore the current landscape of consumer genomics and implications for how genetic test information is used or may be used in research and clinical care. Discussions include topics such as health literacy and engagement, knowledge gaps and data privacy concerns.

Mobile Devices and Health.
Sim Ida et al. The New England journal of medicine 2019 Sep (10) 956-968 (Posted: Sep 05, 2019 8AM)

Mobile health is at the swirling confluence of remote sensing, consumer-facing personal technologies, and artificial intelligence. Data from smartphone apps and an ever-growing range of wearable and environmental sensors can be processed with the use of machine learning and other AI techniques to support health related decision making.

FDA warns testing companies: Don’t tell patients how their DNA influences response to specific drugs
R Robbins, Stat News, August 28, 2019 (Posted: Aug 29, 2019 8AM)

Amid a boom in genetic testing that aims to predict a person’s response to medication, the Food and Drug Administration has been quietly pressuring a handful of companies to stop reporting results to patients about how their genes may interact with specific drugs. The agency’s concern? That unsupported claims about gene-drug links could be dangerous.

Illumina is uncertain about the future strength of DTC genetic testing
Z Hendrickson, Business Insider, August 27, 2019 (Posted: Aug 29, 2019 8AM)

Consumer DNA testing has hit a lull — here’s how it could capture the next wave of users
C Farr, CNBC, August 25, 2019 (Posted: Aug 26, 2019 9AM)

Sales of consumer-focused DNA tests are down this year. One explanation is that companies have simply run out of users who were already interested in learning about their health and family history. A broader issue is that the ultimate medical value is still really unproven.

Genetic Testing Unleashed: What Could Possibly Go Wrong?
E Matloff, Forbes, August 20, 2019 (Posted: Aug 23, 2019 9AM)

Hereditary Cancer Evaluation in 2019-a Rapidly Evolving Landscape.
Yung Rachel L et al. JAMA oncology 2019 Aug (Posted: Aug 21, 2019 8AM)

Advances in technology, specifically next-generation sequencing, and the overturning of patent law have increased the use of panel (multigene) testing over traditional genotyping for BRCA mutations. Clinicians must also be cognizant of the growing prevalence of direct-to-consumer testing. The finding of a BRCA mutation in a patient with cancer now has important implications for treatment with PARP inhibitors.

A writer shared her story about getting frightening genetic results online. The response was surprising
R Robbins, Stat News, August 19, 2019 (Posted: Aug 20, 2019 9AM)

The company considers these results to be sensitive because they can be very, very serious. So when I clicked the link in the email, it took me to a tutorial to see what I was going to get. But I think like most people, I did not expect bad news so I just sort of clicked through it. When I got to the other end of the tutorial it showed that I had the BRCA1 mutation

23andMe had devastating news about my health. I wish it hadn’t come by email
D Pomeranz, Stat News, August 8, 2019 (Posted: Aug 08, 2019 8AM)

Last summer, I thought it might be fun to have my DNA analyzed. Two companies had popped up again and again in my social feeds, so I decided to join the party and see if I could blame my penchant for salty food on my genes. And as a journalist, I was just naturally curious

Mail-in DNA test results bring surprises about family history for many users
N Graf, Pew Research Center, August 6, 2019 (Posted: Aug 07, 2019 8AM)

About one-in-seven U.S. adults (15%) say they have ever used a mail-in DNA testing service. The vast majority of those who have done so (87%) say they wanted to learn more about where their family came from. About a third say they did so to get information about their health or family medical history.

From ancestry to health traits – how do I know if genetic testing may be right for me?
S Rosen, Mayo clinic Individualized Health Blog, July 2019 (Posted: Aug 06, 2019 8AM)

Some genetic tests inform you about your ancestry. Other tests provide you with information about your disease risk, health traits, response to medication, or if you carry a genetic change that could impact the health of your children. Selecting the right genetic test depends on your specific interests and how you intend to use the results.

The Lowdown on At-Home DNA Testing, According to Genetic Counselors
D Smith, Elemental, August 2019 (Posted: Aug 03, 2019 4PM)

More than 26 million people have taken an at-home DNA test. Most use these tests to find out more about their family tree, but genetic testing companies are also claiming they can provide customers with sensitive health information that previously would have come from their doctors

Ready or not, here it comes: Direct-to-consumer pharmacogenomic testing and its implications for community pharmacists.
Gammal Roseann S et al. Journal of the American Pharmacists Association : JAPhA 2019 Jul (Posted: Jul 24, 2019 9AM)

Senior doctors call for crackdown on home genetic testing kits
H Devlin, the Guardian, July 21, 2019 (Posted: Jul 22, 2019 8AM)

Senior doctors have called for a crackdown on consumer genetic tests, following an influx of patients who have been wrongly told they are carrying dangerous mutations linked to cancer or other devastating conditions. Some women have been incorrectly informed by companies that they have faulty BRCA genes, which convey a high risk of breast and ovarian cancers.

Diversity in the Era of Precision Medicine - From Bench to Bedside Implementation
A Mamun et al, Ethnicity and Disease, July 2019 (Posted: Jul 19, 2019 8AM)

The highlights of a conference that include the potential appli­cation of precision medicine at the popula­tion level, the effects of precision medicine and direct-to-consumer testing on health disparities, genetic basis of health dispari­ties, pharmacogenomics, and strategies to enhance participation of under-represented populations in precision medicine.

Why You Shouldn’t Rely on Home DNA Tests for Health Information-For crucial information, it's best to work with a physician or genetic counselor
L Seegert, Next Ave, July 8, 2019 (Posted: Jul 08, 2019 3PM)

Consistency of Direct to Consumer Genetic Testing Results Among Identical Twins.
Huml Anne M et al. The American journal of medicine 2019 Jun (Posted: Jun 19, 2019 9AM)

Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior
SC Nelson et al, AJHG< June 13, 2019 (Posted: Jun 13, 2019 2PM)

Primary Care Physicians' Knowledge, Attitudes, and Experience with Personal Genetic Testing.
Haga Susanne B et al. Journal of personalized medicine 2019 May 9(2) (Posted: Jun 05, 2019 9AM)

The spurious, questionable science behind DNA testing kits
A Katwala, Wired UK, May 2019 (Posted: Jun 03, 2019 8AM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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