Es mostren les entrades ordenades per rellevància per a la consulta recreational. Ordena per data Mostra totes les entrades
Es mostren les entrades ordenades per rellevància per a la consulta recreational. Ordena per data Mostra totes les entrades

23 de desembre 2014

European health regulator on holiday

After Canada, the first european country that has allowed recreational genetic testing is UK. Some weeks ago the Ethics Research Committee approved the commercialisation of 23andme test that provides 100 genetic reports. Wired says:
The £125 spit test kit is not a diagnostic test, but instead identifies genes that are associated with inherited conditions including cystic fibrosis, Alzheimer's disease, Parkinson's disease and sickle cell anaemia. It's not just health information that can be discovered within the results of the test though -- there is also the opportunity for customers to learn more about their inherited traits and genetic ancestry.
Why has the UK approved it and the FDA has restricted the same test in the US?.  Some months ago I explained that european legislation was outdated. Now the genetic testing firm has profited from bad regulation to enter into european market with CE mark. Does anybody know where the regulator is spending their holiday?

PS. While being  so easy to regulate recreational genetic testing under current false advertising rules, why is only the US doing that?. You should know that closer than you think similar tests are available for you. Where is the catalan health regulator?

PS. Why is the tax regulator not on vacation?

Emile Claire Barlow - Jardin d'Hiver

26 de febrer 2015

Opening the door to recreational genetics testing

On February 19th, the US Food and Drug Administration (FDA) authorized 23andMe to market a direct-to-consumer (DTC) carrier test for Bloom syndrome. Such test was classified as a medical device, and exempting it from premarket review. This may pave the way for DTC genetic testing in the US market.
The decision to open door for one test may represent the biggest move towards a recreational genetic testing market. You know that from this blog I have backed a ban on developing such markets and the need for an effective regulatory review different from the flawed medical device system.
The european regulator is still on holiday, I said that some months ago and it is still "out".

PS. Variations in health care in GCS Blog.

22 de novembre 2020

The time to stop recreational testing has come

 Direct-to-Consumer Genetic Testing: Value and Risk

Piecing together information from a variety of sources, one reporter concluded that by early 2019, more than 26 million people worldwide had been tested by the four leading companies, 23andMe, Ancestry, Gene By Gene, and MyHeritage (1). That volume was fueled by aggressive marketing, including discounts in the lead-up to major holidays to promote gifting of test kits. As of May 2020, the  undiscounted price of the basic test offered by the leading companies was $59–$99.

This is an example of what should not had happened. Recreative genomics doesn't add value and increases uncertainty and anxiety. 

Although many consumers of DTCgenetic testing express an intention to modify their lifestyle to address risk factors, studies typically show no changes at follow-up (15, 30). In the PGen Study, 59% of participants said that test results would influence their management of their health (31). However, an analysis of the 762 participants who had complete cancer-related data found that those who received elevated risk estimates were not significantly more likely to change lifestyle or engage in cancer screening than those who received average or below-average risk estimates (44). It may be relevant that no participants tested positive for pathogenic variants in highly penetrant cancer susceptibility genes. As for population health, the Centers for Disease Control and Prevention identify three conditions—hereditary breast and ovarian cancer syndrome,Lynch syndrome, and familial hypercholesterolemia—that are poorly ascertained despite the potential for early detection and intervention to significantly reduce morbidity and mortality (45). The hope is that DTC genetic testing could improve the situation (15). However,DTC genetic testing as currently carried out is likely to fill gaps in haphazard fashion, given the characteristics of purchasers, the scope of available products, and integration issues.

One message. Right now and until we don't know the implications of recreational genetic testing, direct to consumers testing should stop.


Banksy

 

26 de març 2014

Beware of recreational WGS

Clinical Interpretation and Implications of Whole-Genome Sequencing

If some weeks ago I explained the false advertisement case on nutrigenomics, now from JAMA a new alert appears on whole genome sequencing.
Depending on sequencing platform, a median of 10% (Illumina Inc; range, 5%-34%) to 19% (Complete Genomics Inc; range, 18%-21%) of genes associated with inherited disease and a median of 9% (Illumina Inc; range, 2%-27%) to 17% (Complete Genomics Inc; range, 17%-19%) of  ACMG-reportable genes were not covered at a minimum threshold for genetic variant discovery
As far as this is the first time that such differences are reported between two alternative sequencers over the same sample, new uncertainties arise on the value of recreational genomics.


07 d’abril 2017

When science and regulation don't talk to each other

An Evidence Framework for Genetic Testing

National Academy of Sciences and Food and Drug Administration don't talk to each other. At the same time that NASEM publishes a report on how to assess genetic testingFDA clears genetic testing for 23andme without any precise assessment, for the following tests:

  • Parkinson’s disease, a nervous system disorder impacting movement
  • Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills
  • Celiac disease, a disorder resulting in the inability to digest gluten
  • Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease
  • Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements
  • Factor XI deficiency, a blood clotting disorder
  • Gaucher disease type 1, an organ and tissue disorder
  • Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition
  • Hereditary hemochromatosis, an iron overload disorder
  • Hereditary thrombophilia, a blood clot disorder
Meanwhile NASEM recommends a decision framework for the use of genetic tests in clinical care:
1. Define genetic test scenarios on the basis of the clinical setting, the purpose of the test, the population, the outcomes of interest, and comparablealternative methods.
2. For each genetic test scenario, conduct an initial structured assessment to determine whether the test should be covered, denied, or subject to additional evaluation.
3. Conduct or support evidence-based systematic reviews for genetic test scenarios that require additional evaluation.
4. Conduct or support a structured decision process to produce clinical guidance for a genetic test scenario.
5. Publicly share resulting decisions and justification about evaluated genetic test scenarios, and retain decisions in a repository.
6. Implement timely review and revision of decisions on the basis of new data.
7. Identify evidence gaps to be addressed by research.
If you want further details, check Mathew Herper blog. My first impression after reading it is that this move, paves the way for recreational genetic testing. An approach that should be completely banned by legislation. If FDA has done so, let's wait for what it may happen in Europe where the regulator is still planning a change of the regulation in 2022!!! Meanwhile, the door is open (to the worst for citizens).



13 de juliol 2015

A closely guarded secret (2)

Direct Access Testing is the next battle for a new market for lab testing. This is at least what Theranos considers and has been lobbying for. Last December in The New Yorker there was an explanation about the firm and its goals. Afterwards JAMA added some caveats on the secretive way of conducting business and I wrote a post on that. Now The Economist has published an article with the details of the current situation about their business model.
Selling tests directly to the patient is a controversial issue. As in most of prescriptions, patients don't know enough to prescribe for themselves. However, how much is enough?. Arizona is starting to liberalise such prescriptions after Theranos successful lobbying efforts. Professional societies reflect in a position paper their perspectives on the issue.
My view is very straightforward: avoiding commercialism in health care. Under insurance coverage, prescriptions should be required after being cleared by regulators. Without insurance coverage, recreational tests have also to be licensed by regulatory authorities under a disclosure process that has not been the Theranos case. Nowadays, it still remains a secret. Selected tests could be accepted without prescription according to its implications on Health and information accuracy.

01 de novembre 2020

Covid and the Value of Statistical Life

 COVID-19 and Uncertainties in the Value Per Statistical Life

Do the Benefits of COVID‐19 Policies Exceed the Costs? Exploring Uncertainties in the Age–VSL Relationship

For an individual, VSL can be derived by dividing WTP by the risk reduction. A population-average VSL of $10 million indicates that the typical individual is willing to pay $1,000 to decrease the chance of dying in a given year by 1 in 10,000. Individual WTP also can be summed across individuals expected to accrue the risk reduction. If 10,000 people will experience a 1 in 10,000 risk reduction and are each willing to pay $1,000 for the risk change, the total value is $10 million (10,000 times $1,000), and one less person would be expected to die that year as calculated by 10,000 times 1/10,000.

But

Individual WTP, then, is the fundamental measure—the $1,000 in this case. The conversion to a $10 million VSL is simply for convenience. 

 In a recent study with Ryan Sullivan and Jason F. Shogren, I compare the effects of three approaches often used to adjust for age: an invariant population-average VSL; a constant value per statistical life-year (VSLY); and a VSL that follows an inverse-U pattern, peaking in middle age. We find that when applied to the U.S. age distribution of COVID-19 deaths, these approaches result in average VSL estimates of $10.6 million, $4.5 million, and $8.5 million. The differences in these values is substantial enough to alter the conclusions of frequently cited analyses of social distancing.

 Table II. VSL by Age Group (in 2019 millions of dollars)

Age GroupInvariant VSLConstant VSLYInverse‐U Relationship
Under 1 year$10.63$13.88$5.38
1–4 years$10.63$13.74$5.38
5–14 years$10.63$13.37$5.38
15–24 years$10.63$12.64$5.38
25–34 years$10.63$11.76$8.50
35–44 years$10.63$10.63$10.63
45–54 years$10.63$9.19$10.72
55–64 years$10.63$7.54$8.15
65–74 years$10.63$5.68$8.15
75–84 years$10.63$3.72$8.15
85 years and over$10.63$2.03$8.15

 Table III. COVID‐19 Age‐Weighted Value (in 2019 millions of dollars)

Invariant VSLConstant VSLYInverse‐U Relationship
Total value, all COVID‐19 deaths$937.6 billion$394.8 billion$773.4 billion
Average VSL, weighted by COVID‐19 deaths by age$10.63 million$4.47 million$8.31 million
Table IV. Effect of Alternative Approaches on Analytic Results
————————————————‐Benefits————————————‐————
 LivesOriginalInvariantConstantInverse‐U
 CostsSavedApproachVSLVSLYRelationship
Thunström et al. (2020)$7.2 trillion1.24 million$12.4 trillion$13.16 trillion$5.54 trillion$10.30 trillion
Greenstone and Nigam (2020)N/A1.76 million$7.94 trillion$18.72 trillion$7.88 trillion$14.64 trillion
Acemoglu et al. (2020)$2.15 trillion8.7 millionN/A$92.44 trillion$38.93 trillion$72.31 trillion

Does this make sense? It seems quite high. If we value identified life more than a statistical life, can you imagine the final figure?

Whether the social distancing policy considered by Thunström et al. (2020) yields net benefits varies depending on the valuation approach. The authors use an invariant VSL but apply a somewhat lower value than we use in our analysis ($10 million rather than $10.63 million). However, both our invariant VSL and inverse‐U approaches lead to positive net benefits. Under our invariant approach, the benefits increase by almost $800 billion due to differences between the VSL estimates. Benefits decrease when using the inverse‐U approach, but not by a large enough amount to drop below estimated costs. Under the constant VSLY approach, benefits decrease by a substantial amount and the policy no longer appears cost‐beneficial.

While Greenstone and Nigam (2020) do not include a cost estimate in their calculations, the effects of our three approaches on their featured benefit estimates are significant. The benefit estimates more than double when applying the invariant VSL approach rather than their age‐adjusted approach. Interestingly, their estimates are very similar ($7.94 vs. $7.88 trillion) to the results using our constant VSLY method, while applying our inverse‐U estimates almost doubles the value in comparison to their inverse‐U approach. This result reflects the relative steepness of their curve at older ages as well as our assumption that values level off at older ages under the inverse‐U approach. As noted earlier, the additional sensitivity analyses reported by the authors also show siginificant variation in the results.

Acemoglu et al. (2020) have by far the largest estimates of lives saved across the three social distancing studies, which naturally increases the benefit values. Under all three approaches, we find that benefits exceed costs by an order of magnitude. However, Acemoglu et al. (2020) find that approaches other than the scenario reflected in Table IV are more cost‐effective, particularly if they target higher risk, older age groups.

Anyway, let's search a little bit more on that. Let's take the press. I don't think that this helps to take policy decisions in the current pandemic. It's just recreational research.


PS. The price of freedom is 103€ per day in my country (cost of non being free by mistake). Explained here.


Hockney



01 de desembre 2020

Risks and benefits of self-testing

 Benefits and Risks of Direct-to-Consumer Testing

These are the pros and cons of two options for the same production process and its impact (a US view only applicable to certain conditions). (Professionalism vs. commercialism).

Conventional:


Self-testing:


And its impact:

Potential and Perceived Benefits of Direct-to-Consumer Testing



Potential Risks of Direct-to-Consumer (DTC) Testing

With DTC testing, consumers may not know the risks or what significance a result has in terms of current and future health. It is challenging for consumers to distinguish tests for health and wellness from entertainment and commercial marketing. This can leave consumers open to misdiagnosis and susceptible to unproven treatments and questionable claims for cancer and disease cures. DTC tests are both an opportunity for an individual to better participate in their health and in the management of chronic diseases, as long as consumers are aware of the risks for inappropriate utilization and inadvertent interpretation that can lead to avoidable follow-up, unnecessary procedures, and additional costs of care. DTC testing is an emerging field and an opportunity for laboratory experts to participate through providing professional advice, consultation on test limitations, interpretive services, and recommendation on optimal test utilization.

My view, now it's time to stop recreational testing and commercialism of lab testing. Later it will be too late. 

30 de desembre 2014

Do you really want to know about it?

Recreational genetics is entering into the consumer market. I have explained that governments should be active in restricting such practices because they are closely related with false advertising. Beyond that, governments should be aware also about the implications of creating anxiety in population. This documentary asks if patients should know about their genes, when there is no treatment.


PS. Have a look at this one, about ethical dilemmas on genetic testing: