Regulation of Laboratory Genetic Testing

2017 ◽  
Author(s):  
Barbara Zehnbauer ◽  
W. Andrew Faucett
Keyword(s):  
Genetic Testing ◽  
Clinical Laboratory ◽  
Genetic Counselor ◽  
Professional Standards ◽  
Test Results ◽  
Regulatory Requirements ◽  
Clinical Genetic ◽  
Regulatory Oversight ◽  
Laboratory Staff ◽  
Phenotypic Information

Laboratory regulations provide rules to establish consistency and to evaluate performance. They also set out the qualifications and experience needed for laboratory staff to fulfill regulatory requirements and meet professional standards. Clinical genetic counselors play a significant role in determining which tests to offer patients, which laboratories to consider for testing, and which phenotypic information to provide to the clinical laboratory to improve the interpretation of test results. This chapter discusses laboratory regulations pertinent to the type of genetic testing offered and specimens received in the laboratory. The goal is to help the laboratory genetic counselor understand the regulatory oversight of genetic testing and the quality management of clinical laboratory operations.

Laboratory performance and regulatory requirements.

1987 ◽  
Vol 33 (6) ◽  
pp. 1087-1102 ◽  
Author(s):  
M L Kenney
Keyword(s):  
Linear Regression ◽  
Proficiency Test ◽  
Clinical Laboratory ◽  
Group Practice ◽  
Federal Regulations ◽  
Test Results ◽  
Regulatory Requirements ◽  
Service Levels ◽  
Z Scores ◽  
Log Normal

Abstract We compared performance levels of four clinical laboratory groups defined by federal regulatory characteristics, to assess the appropriateness of selected regulations: laboratories in JCAH-accredited hospitals; non-doctoral-directed independent laboratories; state-regulated but federally exempt group-practice laboratories; and unregulated laboratories in physicians' offices (POLs). Federal regulations evaluated were those dealing with the doctoral directorship requirement and exemption of POLs from regulation. Quantitative analytes were compared by using linear regression on log-normal transformations of mean absolute-z scores of proficiency test results. The scope of services offered by laboratories was statistically related to performance in quantitative analytes. Confounding effects of scope-of-service levels were statistically controlled. Proportions of errors in qualitative analytes were compared. No pattern of statistically discernible differences in performance was found between hospital laboratories and non-doctoral-directed laboratories. Both regulated non-doctoral-directed laboratories and state-regulated but federally exempt group-practice laboratories demonstrated higher levels of performance than unregulated POLs.

scholarly journals Employees’ Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing

2021 ◽  
Vol 12 ◽  
Author(s):  
Kunal Sanghavi ◽  
W. Gregory Feero ◽  
Debra J. H. Mathews ◽  
Anya E. R. Prince ◽  
Lori Lyn Price ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Empirical Studies ◽  
Genetic Counselor ◽  
Social Implications ◽  
Genomic Testing ◽  
Test Results ◽  
Research Institution ◽  
Laws And Policies ◽  
Testing Company ◽  
Doctor's Office

Employers have begun to offer voluntary workplace genomic testing (wGT) as part of employee wellness benefit programs, but few empirical studies have examined the ethical, legal, and social implications (ELSI) of wGT. To better understand employee perspectives on wGT, employees were surveyed at a large biomedical research institution. Survey respondents were presented with three hypothetical scenarios for accessing health-related genomic testing: via (1) their doctor; (2) their workplace; and 3) a commercial direct-to-consumer (DTC) genetic testing company. Overall, 594 employees (28%) responded to the survey. Respondents indicated a preference for genomic testing in the workplace setting (70%; 95% CI 66–74%), followed by doctor’s office (54%; 95% CI 50–58%), and DTC testing (20%; 95% CI 17–24%). Prior to participating in wGT, respondents wanted to know about confidentiality of test results (79%), existence of relevant laws and policies (70%), and privacy protection (64%). Across scenarios, 92% of respondents preferred to view the test results with a genetic counselor. These preliminary results suggest that many employees are interested and even prefer genetic testing in the workplace and would prefer testing with support from genetic health professionals. Confirmation in more diverse employer settings will be needed to generalize such findings.

The Laboratory Genetic Counselor as an Educator

2017 ◽  
Author(s):  
Eric Rosenthal ◽  
April L. Studinski Jones
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Medical Students ◽  
Graduate Students ◽  
Educational Program ◽  
Genetic Counselor ◽  
Genetic Counselors ◽  
Educational Resource ◽  
Testing Laboratory ◽  
Laboratory Staff

The laboratory genetic counselor is commonly called upon to serve as an educational resource within the genetic testing laboratory. This chapter outlines this unique genetic counseling role. Laboratory genetic counselors provide education about genetic testing and genetic concepts within the laboratory to existing laboratory staff, new laboratory genetic counselor colleagues, formal educational program participants (genetic counselor interns, graduate students, medical students and residents, and laboratory fellows), and laboratory colleagues. They also use their skills and knowledge to educate client laboratories and clinicians. They may also participate in public and community forums.

scholarly journals Utility of RNA Sequencing Analysis in the Context of Genetic Testing

2020 ◽  
Vol 8 (4) ◽  
pp. 140-146
Author(s):  
Jackie Tahiliani ◽  
Jeanne Leisk ◽  
Kerry Aradhya ◽  
Karen Ouyang ◽  
Swaroop Aradhya ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Rna Sequencing ◽  
Clinical Laboratory ◽  
Sequencing Analysis ◽  
Sample Type ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Rna Analysis ◽  
Uncertain Significance

Abstract Purpose of Review RNA analysis is beginning to be integrated into clinical laboratory genomics, and a review of its current uses and limitations is warranted. Here, we summarize the scope and utility of RNA analysis in the context of clinical genetic testing, including considerations for genetic counseling. Recent Findings RNA analysis is a powerful approach for interpreting some variants of uncertain significance, for analyzing splicing alterations, for providing additional functional evidence for sequence and structural variants, and for discovering novel variants. However, a review of RNA sequencing methods has noted variability in both laboratory processes and findings. Genetic counseling related to RNA analysis has to take into account nonstandardized laboratory processes, sample-type limitations, and differences in variant-interpretation outcomes. Summary RNA analysis is an important complement to DNA testing, although limitations still exist. Maximizing the utility of RNA analysis will require appropriate patient referrals and standardization of laboratory processes as the practice continues to expand the ability to identify and resolve molecular diagnoses.

Genetic Counselor Role in Laboratory Case Management

2017 ◽  
Author(s):  
Jessica R. Balcom ◽  
Anne M. Bandholz ◽  
Amy L. Swanson
Keyword(s):  
Case Management ◽  
Patient Care ◽  
Communication Skills ◽  
Genetic Counselor ◽  
Test Results ◽  
Clinical Interpretation ◽  
Good Communication ◽  
Laboratory Staff ◽  
Counselor Role ◽  
Improving Patient Care

The laboratory genetic counselor plays an important role in case management. This chapter describes the various aspects of this role, such as improving patient care by preventing inappropriate testing, contributing to laboratory and clinical interpretation of test results, and communicating complex or unexpected results. The laboratory genetic counselor serves as a liaison between ordering providers and laboratory staff. Good communication is vital in this role to ensure understanding and appropriate patient care. The communication skills that the laboratory genetic counselor needs are detailed throughout the chapter.

Test Development and Validation

2017 ◽  
Author(s):  
Lisa Catalano ◽  
Alice K. Tanner
Keyword(s):  
Genetic Testing ◽  
Genetic Test ◽  
Genetic Counselor ◽  
Test Development ◽  
Initial Assessment ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Testing Method ◽  
Development And Validation

The process of developing a genetic test starts with an initial assessment of need and utility, followed by the development and validation of the chosen testing method. Several factors must be taken into account during test development, including existing technology, financial requirements, personnel resources, and market share. This chapter reviews the steps involved in the development and the validation/verification of clinical genetic testing. It discusses the factors that are addressed by clinical genetic testing laboratories during the design and implementation phases of test development. The role of the laboratory genetic counselor in this process is highlighted throughout.

Molecular Technologies and Test Issues

2017 ◽  
Author(s):  
Katrina E. Kotzer ◽  
Sarah E. Kerr
Keyword(s):  
Genetic Testing ◽  
Genetic Counselor ◽  
Molecular Genetic ◽  
Molecular Techniques ◽  
Test Results ◽  
Molecular Genetic Testing ◽  
Whole Exome ◽  
Molecular Variant ◽  
The Common ◽  
Generation Sequencing

Molecular genetic testing has been around since the discovery and offering of clinical testing for the first gene sequenced. However, in recent years the methods and scope of molecular genetic testing have evolved significantly to encompass next-generation sequencing, multigene panels, and whole exome and genome testing. With this evolution in molecular methods, the nomenclature and variant evaluation and annotation processes are crucial for the systematic and standard interpretation of molecular test results. This chapter will provide the laboratory genetic counselor with information about the common sample types analyzed by molecular techniques for the purposes of genetic testing and the various methodologies available and their limitations. Guidelines are given for the standard approach to molecular variant reporting with respect to nomenclature and variant classification.

Genetic Counselor Communication and Counseling Skills for the Laboratory

2017 ◽  
Author(s):  
Karen E. Wain
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Visual Cues ◽  
Genetic Counselor ◽  
Genetic Counselors ◽  
Counseling Skills ◽  
Test Results ◽  
Key Factors ◽  
Circle Of Care ◽  
Building Rapport

Laboratory genetic counselors need to use excellent communication skills when discussing genetic testing and relaying test results. Genetic counselors serve as key members of the patient’s circle of care. By using their counseling skills, they promote best practices in genetic testing. This chapter demonstrate the use of counseling skills in the laboratory setting. It outlines key factors to consider when communicating with other healthcare professionals, such as working without visual cues, building rapport, and gathering information.

scholarly journals Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 3698-3698
Author(s):  
Margaret Diguardo ◽  
Scott Hammel ◽  
Kate Heaser ◽  
Victor Mahaffey ◽  
Christopher Hofich ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Blood Cell ◽  
Blood Cells ◽  
Genetic Test ◽  
Trauma Patients ◽  
Test Results ◽  
Clinical Genetic ◽  
Donor Chimerism ◽  
Genetic Test Results

Background: Molecular genetic testing is increasingly utilized in clinical care, typically with peripheral blood as the preferred specimen. Despite the prevalence of therapeutic blood transfusions, whether donor DNA is present in a sufficient quantity to interfere with recipient genetic testing has not been systematically studied. Microchimerism secondary to transfusion of blood products with donor leukocytes has been well-documented in trauma patients receiving whole blood; however, most medical centers currently transfuse leukoreduced (LR) red blood cell products for non-trauma patients. The degree of leukoreduction varies among centers, but to meet AABB standards must be <5x106 white blood cells (WBC) in 95% of units tested. We sought to determine what quantity, if any, of infused LR or non-LR (NLR) products leads to detectable microchimerism that may impact genetic test results. Methods: We performed an in vitro spiking study utilizing four whole blood units collected from different anonymous donors. Three were leukoreduced at varying levels in order to establish a LR (per our institutional guidelines and standards), a partially leukoreduced (PLR) and a NLR unit, which were then considered "donors". The 4th unit was divided to generate two separate "recipients". The first half was left untreated simulating an immunocompetent recipient while the other was leukoreduced to mimic a leukopenic recipient. Based on a 70 kg patient, we calculated the volume of blood from each "donor" to mix with aliquots of each "recipient" to represent a transfusion of 2, 5, or 16 units, with 2 units corresponding to a double apheresis red blood cell (RBC) transfusion and 16 units corresponding to a near total volume transfusion. DNA was extracted from each individual unit as well as all "transfused" combinations within 24 hours of mixing. Chimerism analysis was then performed by STR analysis using the GlobalFiler PCR amplification kit followed by ChimerMarker analysis software. Results: None of the LR units, despite volume transfused, revealed any level of microchimerism in either the immunocompetent or leukopenic "recipients". The PLR transfused combinations displayed levels ranging from 0.14% to 1.52% of donor chimerism for the immunocompetent "recipient", which is below the limit of detection for most clinical assays evaluating germline genetic variation, and 6.3% to 27.78% of donor chimerism for the leukopenic "recipient", which would be expected to impact a subset of clinical genetic assays. The NLR transfused combinations displayed levels ranging from 13.28% to 95.66% of donor chimerism. Discussion:In vitro "transfusion" of LR RBCs into simulated immunocompetent or leukopenic samples does not lead to detectable donor DNA. However, "transfusion" of PLR and NLR units in an in vitro model reveals significant levels of microchimerism dependent on volume transfused and immune status of the "recipient" which implies possible risk for impact on clinical genetic tests. The minimum time required for clearance of donor leukocytes in the recipient is unknown; we were unable to fully evaluate this and other variables in our in vitro system, but follow-up in vivo studies addressing this question are planned. Disclosures No relevant conflicts of interest to declare.

scholarly journals Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics

2003 ◽  
Vol 49 (10) ◽  
pp. 1717-1725 ◽  
Author(s):  
Vivianna M Van Deerlin ◽  
Lisa H Gill ◽  
Jennifer M Farmer ◽  
John Q Trojanowski ◽  
Virginia M-Y Lee
Keyword(s):  
Genetic Testing ◽  
Frontotemporal Dementia ◽  
Research Laboratory ◽  
Clinical Laboratory ◽  
Genetic Test ◽  
Genetic Disorders ◽  
Gene Discovery ◽  
Opportunity To Learn ◽  
Chromosome 17 ◽  
Clinical Genetic

Abstract Genetic testing is important for diagnosis and prediction of many diseases. The development of a clinical genetic test can be rapid for common disorders, but for rare genetic disorders this process can take years, if it occurs at all. We review the path from gene discovery to development of a clinical genetic test, using frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) as an example of a complex, rare genetic condition. An Institutional Review Board-approved multidisciplinary research program was developed to identify patients with familial frontotemporal dementia. Genetic counseling is provided and DNA obtained to identify mutations associated with FTDP-17. In some cases it may be appropriate for individuals to be given the opportunity to learn information from the research study to prevent unnecessary diagnostic studies or the utilization of inappropriate therapies, and to make predictive testing possible. Mutations identified in a research laboratory must be confirmed in a clinical laboratory to be used clinically. To facilitate the development of clinical genetic testing for a rare disorder, it is useful for a research laboratory to partner with a clinical laboratory. Most clinical molecular assays are developed in research laboratories and must be properly validated. We conclude that the transition of genetic testing for rare diseases from the research laboratory to the clinical laboratory requires a validation process that maintains the quality-control elements necessary for genetic testing but is flexible enough to permit testing to be developed for the benefit of patients and families.

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