Genetic Counselors: An Important Resource for Families following a Young Sudden Cardiac Death

MacLeod, Heather; Demo, Erin; Honeywell, Christina; Rutberg, Julie

doi:10.23907/2013.023

Cited by 8 publications

(12 citation statements)

References 21 publications

(7 reference statements)

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“…Even in an urgent setting such as case 2, the genetic testing strategy can be streamlined to minimize costs and obtain the most useful information. In cases in which a person's prognosis is dire and a genetic cause has not been identified, genetic counselors can also discuss DNA banking as an option to guarantee a sample is available for any new tests that may be developed in the future 40 .…”

Section: Discussionmentioning

confidence: 99%

A Case for Inclusion of Genetic Counselors in Cardiac Care

Arscott

Caleshu

Kotzer

et al. 2016

Cardiology in Review

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Recent advances in genetic testing for heritable cardiac diseases have led to increasing involvement of the genetic counselor in cardiology practice. We present a series of cases collected from a nationwide query of genetics professionals regarding issues related to cost and utilization of genetic testing. Three themes emerged across cases: (1) choosing the most appropriate genetic test, (2) choosing the best person to test, and (3) interpreting results accurately. These cases demonstrate that involvement of a genetic counselor throughout the evaluation, diagnosis, and continuing management of individuals and families with inherited cardiovascular conditions helps to promote the efficient use of health care dollars.

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Section: Discussionmentioning

confidence: 99%

A Case for Inclusion of Genetic Counselors in Cardiac Care

Arscott

Caleshu

Kotzer

et al. 2016

Cardiology in Review

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“…Sudden cardiac death (SCD) is defined as the sudden, unexpected loss of heart function in an individual, with death occurring less than one hour after the onset of symptoms if witnessed, or if unwitnessed, the decedent had been seen alive and well within 24 hours of death (1,2). For younger individuals who are affected by SCD, a significant genetic contribution has been described (3,4). At least 40% of SCD in individuals under 40 years of age are attributed to genetic causes (3,5).…”

Section: Introductionmentioning

confidence: 99%

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death

Liu¹,

MacLeod²,

Webster³

et al. 2018

Academic Forensic Pathology

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A significant portion of sudden death cases result from an underlying genetic etiology, which may be determined through postmortem genetic testing. The National Association of Medical Examiners (NAME) recommends that an appropriate postmortem sample is saved on all sudden death cases under the age of 40. Genetic counselors (GCs) play an important role in this process by working with medical examiners and coroners (ME/Cs) to recommend and interpret specific testing and to guide family members. A survey sent to the National Society of Genetic Counselors was designed and implemented to learn more about the experiences of genetic counselors who had considered or ordered postmortem genetic testing. Results showed that cardiovascular GCs were significantly more willing to recommend genetic testing in younger age decedents (ages 10, 18, 30, 40, and 50) compared to other specialty GCs (p<0.05, Chi-square). Thirty-seven percent (7 of 19) of GCs reported insurance covering some portion of genetic testing. Participants also reported highest success for DNA extractions with fresh and frozen blood, reinforcing NAME recommendations for appropriate sample collection for postmortem genetic testing. Overall, participating GCs demonstrated a very good understanding for the appropriate use of postmortem genetic testing and did identify suspected barriers of cost and lack of insurance coverage as deterrents. With the rapid decrease in costs for diagnostic genetic testing, ME/C awareness of NAME recommendations for sample collection and storage remain important to facilitate postmortem genetic testing.

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“…This is a population in which there is often high suspicion for inherited cardiovascular disease, especially in people less than age 40. This population benefits from the GC's review of the family history, obtaining relevant records and autopsy reports, counseling on family cardiac screening recommendations, and coordination of post-mortem genetic testing when available (MacLeod et al 2013;Priori et al 2013;Stattin et al 2016). The work of the GC was integral for these cases.…”

Section: Discussionmentioning

confidence: 99%

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services

Helm

Freeze

Spoonamore

et al. 2017

Journal of Genetic Counseling

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There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.

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Genetic Counselors: An Important Resource for Families following a Young Sudden Cardiac Death

Cited by 8 publications

References 21 publications

A Case for Inclusion of Genetic Counselors in Cardiac Care

A Case for Inclusion of Genetic Counselors in Cardiac Care

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services

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