Uhlmann Rejoinder to: Taubman’s “Letter to the Editor”

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146973/1/jgc40419.pd

Response to Robert G. Resta Commentary (Unprepared, Understaffed, and Unplanned: Thoughts on the Practical Implications of Discovering New Breast and Ovarian Cancer Causing Genes)

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147069/1/jgc40524.pd

National Society of Genetic Counselors Natalie Weissburger Paul Lifetime Achievement Award Address: The Power of Connecting

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147102/1/jgc40007.pd

Genetic Testing Integration Panels (GTIPs): A Novel Approach for Considering Integration of Direct‐To‐Consumer and Other New Genetic Tests into Patient Care

There has been a dramatic increase in the number of genetic tests available but few tests have practice guidelines. In addition, many tests have become available outside of clinical settings through direct‐to‐consumer (DTC) companies and several offer tests not considered standard of care. To address several practical challenges associated with the rapid introduction of clinical and DTC genetic tests, we propose that genetic counselors and geneticists organize expert panels in their institutions to discuss the integration of new tests into patient care. We propose the establishment of Genetic Testing Integration Panels (GTIPs) to bring together local experts in medical genetics, genetic counseling, bioethics and law, health communication and clinical laboratory genetics. We describe key features of this approach and consider some of the potential advantages and limitations of using a GTIP to address the many clinical challenges raised by rapidly emerging clinical and DTC genetic tests.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147023/1/jgc40374.pd

Genetic Counseling Services and Training of Genetic Counselors in Israel: An Overview

Genetic counseling services have existed in Israel since 1964 and are available in almost all the major hospitals. Given the socialized healthcare system and small country size, genetic services are generally accessible and often free. The existence of founder mutations in various communities in Israel makes genetic testing easier to perform. Yet, the ethnic, cultural and religious diversity of the population has major implications on the design of the screening programs and the use of genetic services. The Israeli Association of Genetic Counselors (IAGC) was established in 2008 and had existed informally since 1989. There are two Master level genetic counseling training programs (6 students/class, 2 year program): Hebrew University‐Hadassah Medical School (established in 1997) and the Technion (established in 2009). Genetic counselors’ clinical training is largely observational and 2 years of supervised counseling sessions post degree are required for board exam eligibility. Genetic counselors are licensed and lead counseling sessions individually, but currently must work under medical geneticist supervision. This is the first article to summarize the history and training of Master level genetic counselors in Israel. Genetic services, coverage and regulations are also described.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147065/1/jgc40890.pd

Development of a Streamlined Work Flow for Handling Patients’ Genetic Testing Insurance Authorizations

Obtaining genetic testing insurance authorizations for patients is a complex, time‐involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time‐saving work flow changes were introduced including 1) creation of an Excel password‐protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow‐up 2) instituting the PSAs sending GCs a pre‐clinic email noting each patients’ genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146999/1/jgc40657.pd

Living at Risk: The Sibling’s Perspective of Early‐Onset Alzheimer’s Disease

Early‐onset Alzheimer’s disease (EOAD) is an increasingly diagnosed condition and is associated with genetic risk factors. This is one of the first studies exploring the lived experience of siblings of individuals with EOAD. We used structured questionnaires and semi‐structured interviews to assess a broad range of siblings’ experiences with and beliefs about EOAD, including knowledge, perceptions of personal risk, level of worry, and effects on life decisions. Participants (n = 24) were predominantly female (62.5%) and middle‐aged (mean = 56.8 years; range 37–83). When asked about risk factors, genetics was cited most frequently (62.5%). Several potential means of reducing AD risk were endorsed, with 54% reporting engagement in behaviors for this purpose (e.g., keeping mentally active). Participants ranged widely in their perceived personal risk of AD (range: 0–100; mean = 35.6%), with higher perceived risk associated with worry about AD (p < 0.01). Understanding siblings’ experiences with EOAD can inform how genetic counselors and healthcare professionals work with this population to facilitate risk communication and decision‐making about testing and healthcare.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147019/1/jgc40239.pd

Prenatal Testing for Adult‐Onset Conditions: the Position of the National Society of Genetic Counselors

Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult‐onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force’s development of the Prenatal testing for Adult‐Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146906/1/jgc41139.pd

Utilization of Genetic Counseling after Direct‐to‐Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

Direct‐to‐consumer personal genomic testing (DTC‐PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre‐ and post‐PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in‐person GC had it been available. Compared to non‐seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1–13.8), feeling motivated to pursue DTC‐PGT for health reasons (OR = 4.3, CI = 1.8–10.1), fair or poor self‐reported health (OR = 3.1, CI = 1.1–8.3), and self‐reported uncertainty about the results (OR = 1.8, CI = 1.1–2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC‐PGT results.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146977/1/jgc41270.pd

Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges

Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co‐occurrence of ALS with HD. We present a 57‐year‐old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient’s inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147074/1/jgc40725.pd