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NIH Researchers Find Many People Want Secondary Genomic Findings After Initially Refusing

A study published today by researchers at the National Institutes of Health revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information. The paper, published in Genomics in Medicine, examines people’s attitudes about receiving secondary genomic findings related to treatable or preventable diseases.

The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute of Environmental Health Sciences (NIEHS), both part of NIH.

Animation of patient filling out an informed consent form and checking the “YES” checkboxes for both Expected Outcome and Secondary Findings. Credit: Ernesto del Aguila III, NHGRI.

With the broader adoption of genome sequencing in clinical care, researchers and the bioethics community are considering options for how to navigate the discovery of secondary genomic findings. Secondary findings that come out of genome sequencing reflect information that is separate from the primary reason for an individual’s medical care or participation in a study. For example, the genomic data of a patient who undergoes genome sequencing to address an autoimmune problem might reveal genomic variants that are associated with a heightened risk for breast cancer.

Based on the American College of Medical Genetics and Genomics recommendations in 2021, individuals who have their genomes sequenced for a clinical reason should also be screened for genomic variants in 73 genes, including BRCA1 and BRCA2, both of which are linked to an increased risk of breast and ovarian cancer. All 59 genes are associated with treatable or potentially severe diseases. Proponents of a person’s right to not know their secondary genomic findings have argued that, to maintain autonomy, individuals should have the opportunity to decide whether to be provided information about genomic variants in these additional genes.

“Because these genomic findings can have life-saving implications, we wanted to ask the question: Are people really understanding what they are saying no to? If they get more context, or a second opportunity to decide, do they change their mind?” said Benjamin Berkman, J.D., M.P.H., deputy director of the NHGRI Bioethics Core and senior author on the study.

The research group worked with participants from the Environmental Polymorphisms Registry, an NIEHS study examining how genetic and environmental factors influence human health. Out of 8,843 participants, 8,678 elected to receive secondary genomic findings, while 165 opted out. Researchers assessed those 165 individuals to determine how strongly and consistently they maintained their “right not to know” decision. The researchers wanted to determine whether providing additional information to people about their genomic variants influenced their decision and to better understand why some people still refused their secondary genomic findings after they received the additional information.

Following the intervention, the researchers found that the 165 people sorted into two groups: “reversible refusers” who switched their decision to accept to know their secondary genomic findings and “persistent refusers” who still refused.

Because these genomic findings can have life-saving implications, we wanted to ask the question: Are people really understanding what they are saying no to? If they get more context, or a second opportunity to decide, do they change their mind?

“It is worth noting that nearly three-quarters of reversible refusers thought they had originally agreed to receive secondary genomic findings,” said Will Schupmann, a doctoral candidate at UCLA and first author on the study. “This means that we should be skeptical about whether checkbox choices are accurately capturing people’s preferences.”

Based on the results, the researchers question whether healthcare providers should ask people who have their genome sequenced if they want to receive clinically important secondary genomic findings. Investigators argue that enough data supports a default practice of returning secondary genomic findings without first asking participants if they would like to receive them.

But research studies should create a system that also allows people who do not want to know their secondary genomic findings to opt out. The researchers suggest that if healthcare providers actively seek their patients’ preferences to know or not know about their secondary genomic findings, the providers should give the individuals multiple opportunities to make and revise their choice.

“The right not to know has been a contentious topic in the genomics research community, but we believe that our real-world data can help move the field towards a new policy consensus,” said Berkman.

Researchers at the NIH Department of Bioethics, NIEHS, Harvard University and Social & Scientific Systems collaborated on the study.

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  1341. 最新的民調顯示，2024年台灣總統大選的競爭格局已逐漸明朗。根據不同來源的數據，目前民進黨的賴清德與民眾黨的柯文哲、國民黨的侯友宜正處於激烈的競爭中。

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  1344. 總統民調
    最新的民調顯示，2024年台灣總統大選的競爭格局已逐漸明朗。根據不同來源的數據，目前民進黨的賴清德與民眾黨的柯文哲、國民黨的侯友宜正處於激烈的競爭中。

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  1357. 2024娛樂城的創新趨勢

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  1422. Brands that manufacture chronometer watches
    Understanding COSC Certification and Its Importance in Watchmaking
    COSC Validation and its Stringent Criteria
    Controle Officiel Suisse des Chronometres, or the Official Swiss Chronometer Testing Agency, is the official Swiss testing agency that attests to the accuracy and accuracy of wristwatches. COSC accreditation is a symbol of excellent craftsmanship and reliability in timekeeping. Not all watch brands seek COSC certification, such as Hublot, which instead adheres to its own demanding criteria with movements like the UNICO, achieving similar accuracy.

    The Art of Precision Timekeeping
    The core system of a mechanized timepiece involves the spring, which provides energy as it unwinds. This mechanism, however, can be prone to environmental factors that may affect its precision. COSC-accredited mechanisms undergo rigorous testing—over fifteen days in various conditions (5 positions, 3 temperatures)—to ensure their resilience and dependability. The tests evaluate:

    Average daily rate precision between -4 and +6 seconds.
    Mean variation, maximum variation rates, and effects of temperature changes.
    Why COSC Validation Is Important
    For timepiece fans and collectors, a COSC-certified watch isn’t just a item of technology but a proof to enduring excellence and accuracy. It symbolizes a watch that:

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    Provides assurance of quality across the whole design of the watch.
    Is apt to maintain its value more effectively, making it a smart investment.
    Famous Timepiece Brands
    Several renowned brands prioritize COSC validation for their watches, including Rolex, Omega, Breitling, and Longines, among others. Longines, for instance, presents collections like the Record and Soul, which feature COSC-validated movements equipped with cutting-edge materials like silicone equilibrium springs to enhance resilience and performance.

    Historic Context and the Evolution of Chronometers
    The idea of the chronometer dates back to the requirement for exact chronometry for navigational at sea, highlighted by John Harrison’s work in the eighteenth century. Since the formal foundation of COSC in 1973, the certification has become a benchmark for judging the precision of high-end watches, continuing a tradition of excellence in horology.

    Conclusion
    Owning a COSC-validated watch is more than an aesthetic selection; it’s a dedication to excellence and accuracy. For those appreciating precision above all, the COSC certification provides peacefulness of mind, guaranteeing that each certified timepiece will perform dependably under various circumstances. Whether for individual satisfaction or as an investment decision, COSC-certified watches stand out in the world of watchmaking, bearing on a legacy of meticulous chronometry.

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