Secondary findings: How did we get here, and where are we going?

Ormond, Kelly E.; O’Daniel, Julianne; Kalia, Sarah S.

doi:10.1002/jgc4.1098

Cited by 20 publications

(15 citation statements)

References 81 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A conflict of interest might arise between the researcher's or clinician's ''duty to inform'' at-risk patients and family members and the individual's ''right not to know''. 58 Furthermore, genetic testing could infringe on family privacy because results indirectly provide information about family members 59 and may include mispaternity. These possibilities should be discussed with the patient before testing.…”

Section: Key Pointsmentioning

confidence: 99%

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Brown

Sturm²,

Cuchel

et al. 2020

Journal of Clinical Lipidology

View full text Add to dashboard Cite

The genetic basis for more than 2 dozen monogenic dyslipidemias has largely been defined. Genetic technologies, such as DNA sequencing, can detect both rare and common DNA variants underlying dyslipidemias, and these methods are increasingly available. Although patients with extreme abnormalities in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol may be considered for genetic testing, it is only in a minority of patients that the results will alter treatment or outcomes. Currently, there is potential clinical utility of genetic testing for familial hypercholesterolemia, familial chylomicronemia syndrome, sitosterolemia, lysosomal acid lipase deficiency, and a few other rare disorders, and this will increase the demand for reliable genetic diagnostic methods at lower cost. Clinical indications for genetic testing for most dyslipidemias are not clearly established and currently no guidelines exist. A shared decision-making model between the patient and the provider is essential as patient values and preferences play a very strong role. Potential benefits of genetic testing include providing a firm diagnosis in many cases, guiding optimal management and prevention strategies, advancing care strategies beyond currently available treatments, and contributing to overall scientific progress. Understanding the limitations and risks of genetic testing techniques is also important, as is careful interpretation of genetic test results to achieve the greatest benefit. Here we review laboratory methods, as well as technical, biological, clinical, and ethical implications and applications of genetic testing in dyslipidemias.

show abstract

Section: Key Pointsmentioning

confidence: 99%

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Brown

Sturm²,

Cuchel

et al. 2020

Journal of Clinical Lipidology

View full text Add to dashboard Cite

show abstract

“…Yet communicating such results requires special attention to both the personal and medical relevance for patients. The development of clinical genetics has added another dimension to the issue of secondary findings, prompting a global debate as to whether clinically relevant genetic mutations should be communicated to patients, and under which circumstances (Ormond et al, 2019). Definitions of the terms used are provided in Table 1.…”

Section: Term (Research Context) Definitionmentioning

confidence: 99%

Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network

Blasimme

Brall

2020

Front. Genet.

View full text Add to dashboard Cite

In 2017 the Swiss federal government established the Swiss Personalized Health Network (SPHN), a nationally coordinated data infrastructure for genetic research. The SPHN advisory group on Ethical, Legal, and Social Implications (ELSI) was tasked with the creation of a recommendation to ensure ethically responsible reporting of genetic research findings to research participants in SPHN-funded studies. Following consultations with expert stakeholders, including geneticists, pediatricians, sociologists, university hospitals directors, patient representatives, consumer protection associations, and insurers, the ELSI advisory group issued its recommendation on “Reporting actionable genetic findings to research participants” in May 2020. In this paper we outline the development of this recommendation and the provisions it contains. In particular, we discuss some of its key features, namely: (1) that participation in SPHN-funded studies as a research subject is conditional to accepting that medically relevant genetic research findings will be reported; (2) that a Multidisciplinary Expert Panel (MEP) should be created to support researchers’ decision-making processes about reporting individual genetic research findings; (3) that such Multidisciplinary Expert Panel will make case-by-case decisions about whether to allow reporting of genetic findings, instead of relying on a pre-defined list of medically relevant variants; (4) that research participants shall be informed of the need to disclose genetic mutations when applying for private insurance, which may influence individual decisions about participation in research. By providing an account of the procedural background and considerations leading to the SPHN recommendation on “Reporting actionable genetic findings to research participants,” we seek to promote a better understanding of the proposed guidance, as well as to contribute to the global dialog on the reporting of genetic research findings.

show abstract

“…We have discussed the difficulties with these ACMG guidelines (19). Studies have shown low yield from these guidelines (65, 66).…”

Section: Caveatsmentioning

confidence: 99%

All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing

2019

View full text Add to dashboard Cite

Secondary findings: How did we get here, and where are we going?

Cited by 20 publications

References 81 publications

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network

All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing

Contact Info

Product

Resources

About