Personalized Medicine: Impact on Patient Care in Genetic Counseling

Nagy, Rebecca; Sturm, Amy C.

doi:10.1007/s40142-013-0009-3

Cited by 6 publications

(4 citation statements)

References 37 publications

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“…However a lack of training , time , and reimbursement , compounded by new challenges such as ordering the appropriate test and interpreting results associated with panel testing may exacerbate the problems NGPs already face in providing genetic services consistent with standard of care. Although individuals at risk for HBOC may present in primary and oncology clinics, the focus of NGP education should acknowledge the important role NGPs play in the identification and referral (to genetics specialists) of patients at risk for hereditary cancer . In addition, more direct NGP education about the role and importance of genetics professionals in delivering guideline adherent genetics services in an increasingly complicated and rapidly changing field should be emphasized.…”

Section: Discussionmentioning

confidence: 99%

“…At the provider level, studies over the last decade document NGPs interest in providing genetic services (5,17,21). However a lack of training (5, 21-23), time (19), and reimbursement (19,24), compounded by new challenges such as ordering the appropriate test and interpreting results associated with panel testing (25) may exacerbate the problems NGPs already face in providing genetic services consistent with standard of care. Although individuals at risk for HBOC may present in primary and oncology clinics, the focus of NGP education should acknowledge the important role NGPs play in the identification and referral (to genetics specialists) of patients at risk for hereditary cancer (18,25,26).…”

Section: Discussionmentioning

confidence: 99%

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Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida

et al. 2014

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Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs), perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pretest counseling lasting 11–30 minutes prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline based practice may result in direct harm to the patients and their family members. NGPs that are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida

et al. 2014

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“…Given this, it may be unrealistic to assume that patients faced with certain kinds of decisions related to PM will be provided enough time and information to fully appreciate the potential benefits and risks of genomic testing. Such risks include potential loss of privacy, genetic discrimination, ambiguous incidental findings, anxiety or familial discord [69][70][71][72].…”

Section: Pm Conflicting Ethical Principles and Societal Vs Individual mentioning

confidence: 99%

Improving the Quality of ‘Personalized Medicine’ Research and Practice: Through an Ethical Lens

Browman

Vollmann

Virani

et al. 2014

Personalized Medicine

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The evolving vision for personalized medicine (PM) implies a systems approach to the re-organization of healthcare and how we define the boundary between care and research. Calls for scaling PM up to a systems level requires a broad definition of quality not restricted to how the different elements of the system perform (e.g., laboratory quality control, biomarker prediction, biobanking, information systems, data sharing and security, and clinical outcomes) but how these elements work together to optimize population relevant quality indicators - effectiveness, affordability, system sustainability, public confidence and accessibility. Examples of PM-associated information technologies and innovative clinical evaluation methods with a focus on cancer medicine are provided to demonstrate how quality and ethics are inextricably linked to a PM systems approach. While current, traditional ethical standards sometimes challenge the PM approach, PM is challenging us to review ethical standards and improve ethical frameworks to meet new and future realities.

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“…NGS technologies have demonstrated the capacity to sequence DNA at unprecedented speed, thereby enabling previously unimaginable scientific achievements and novel biological applications [4]. With the completion of the Human Genome Project and rapid advances in sequencing, including NGS techniques, it is undeniable that the era of genomic medicine is upon us [5]. The generation of genome-wide sequencing data cost effectively with deep coverage in a short time frame is replacing approaches that focus on specific regions for gene discovery and clinical testing [6].…”

Section: Introductionmentioning

confidence: 99%

State-of-the-Art Technologies to Interrogate Genetic/Genomic Components of Drug Response

Banerjee¹,

2013

Curr Genet Med Rep

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Over the last decade, the study of genomes has rapidly advanced to the point that genomic research now serves as the basis for many medical decisions and public health initiatives. Genetic variation is likely to contribute substantially to the variation in drug response observed across human populations. Genomic tools such as sequence variation and, more specifically, personal genome sequencing incorporating genome-wide association studies and nextgeneration sequences enable the precise prediction and treatment of disease. At present, DNA-based risk assessment for common complex diseases, application of molecular signatures and dose selection of therapeutic drugs are the important issues in personalized medicine. In order to make personalized medicine effective, these genomic techniques must be standardized and integrated into health systems and clinical workflow for prediction of disease incidence, genetic and environmental information to optimize the medical care and outcomes for each patient. Technology continues to lead the field of personalized medicine since the interpretation of the human genome is progressing as the cost and duration of genomic sequencing continue to decrease sharply. This review aimed at understanding the technologies that reveal how the changes that occur within the genome can alter their functions and the genomic variations that constitute individual susceptibility to diseases and responses to therapy.

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Personalized Medicine: Impact on Patient Care in Genetic Counseling

Cited by 6 publications

References 37 publications

Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida

Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida

Improving the Quality of ‘Personalized Medicine’ Research and Practice: Through an Ethical Lens

State-of-the-Art Technologies to Interrogate Genetic/Genomic Components of Drug Response

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