Judith Benkendorf

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

Disclaimer: This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9–10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result.Genet Med 18 10, 1056–1065.

The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists.

The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists

The gap between practice and genetics education of health professionals: HuGEM survey results.

Purpose: To determine the genetics education needs and priorities of dietitians, occupational therapists, physical therapists, psychologists, speech-language-hearing specialists, and social workers.Methods: A random sample mail survey of 3600 members of 6 national health professional organizations was undertaken in 1998 and resulted in 1958 responses.Results: A majority worked with clients with genetic conditions, most were providing genetic services to some clients, few had high confidence in providing genetic services, most had little or no education in genetics, and two-thirds wanted continuing education.Conclusion: The study shows a critical need for genetics education of allied and counseling health professionals.

Reporting genomic secondary findings: ACMG members weigh in

Purpose:The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing.Methods:A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics.Results:The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with “best practice” items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient preferences should be considered, including ability to opt out, and that informed consent was feasible and critical. Characteristics significantly associated with factor scores included country of residence, sequencing experience, and years in practice.Conclusion:The American College of Medical Genetics and Genomics should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional. Research on implementation of secondary findings reporting is needed.Genet Med advance online publication 13 November 2014

Newborn screening residual dried blood spot use for newborn screening quality improvement.

Abstract: The outcomes of a meeting that focused on the role of the residual dried blood spots from newborn screening for uses in the improvement of newborn screening are reported. Discussions of policy development, such as this one, begin by identifying the problem to be solved; in this case, it is achieving common ground to develop consistent policies for the use of residual dried blood spots, such that their benefits to the publics health and the health of children are amplified, and harms are minimized. Similarly, the issue must be considered contextually. The example of newborn screening for phenylketonuria was used to highlight the issues in the context of the condition with the longest history in newborn screening. Principles and recommendations for the use of the residual dried blood spot were developed.

Risk categorization for oversight of laboratory-developed tests for inherited conditions

This document represents the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to classify laboratory-developed tests for inherited conditions. Risk classification has been the determinant of whether or not medical tests are overseen and regulated by the US Food and Drug Administration (FDA). Therefore, because laboratory-developed tests for germline mutations continue to proliferate without sound regulatory frameworks in place, an ACMG-appointed workgroup of laboratorians and clinicians considered the medical risks and implications resulting from germline mutation analysis in a variety of contexts to develop the proposed approach. It is expected that the expert opinion represented in this proposed classification system will be used to guide federal agencies, policymakers, and other stakeholders. The ACMG has categorized testing for inherited conditions by utilizing the three-tiered risk-based system (Table 1), as Risk categorization for oversight of laboratory-developed tests for inherited conditions

National Survey of Providers Treating Patients With Metabolic Disorders Identified by Newborn Screening Demonstrates Challenges Faced by Clinical Care Systems

Objectives. To evaluate care processes for infants who are identified by newborn screening (NBS) and diagnosed with metabolic disorders during their first year of life. Methods. A survey instrument was used to assess the scope and intensity of services needed to provide quality health care for patients from birth to 1 year of age who have a metabolic disorder identified by NBS. Significance testing was not performed; descriptive analyses are reported. Results. Providers spend significant amounts of time on activities that are not direct patient care. The most challenging aspect of their work was the lack of reimbursement for care. Conclusion. Provision of genetics services for patients with a metabolic disorder is time and labor intensive, and insurance coverage and reimbursement for these services remain inadequate. Health care payment and/or system reform is necessary to provide optimal care to patients with metabolic disorders identified by NBS.

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

(Abstracted from Genet Med 2016;18(10):1056–1065)Rapid advancements in genomic technologies led to the introduction in 2011 of noninvasive prenatal screening (NIPS) that used cell-free DNA (cfDNA) derived from the placenta and circulating in maternal blood. Noninvasive prenatal screening is addresse

Genetic legacy and the genomic future.

AT THE BEGINNING My story starts in a ninth-grade biology class. There I was introduced to the principles of human genetics and several disorders in which they were exemplified. I loved the math and probability, the relationship between human variability and disease, and the notion declared by the course’s teacher, Joan Heller, that “one day there will be health professionals who will help families understand disease risk and make tough choices.” I was hooked. At the University of Cincinnati in the mid-1970s, I met my first human genetics mentors. Dr Carl Huether, active in the American Society of Human Genetics (ASHG), saw human genetics through a societal lens and challenged us to think “big picture,” including the importance of genetics education. Dr Lawrence Erway engaged me in basic research: we bred mice with a pigment mutation that had pleiotropic effects on otolith morphology, resulting in congenital ataxia. These mentors helped me realize both that I was intellectually curious and that I needed to work interactively with people. When I entered the Human Genetics Program at Sarah Lawrence College in September 1978, genetic counseling was a small and nascent field: the National Society of Genetic Counselors (NSGC) was incorporated as I graduated; genetic counselors were called “genetic associates” in some circles; nondirective counseling was de rigueur; and the first set of board exams would be given in December 1981. There was excitement and uncertainty about the future—the opportunities were mine to seize and create. My first job was at the Mailman Center for Child Development at the University of Miami School of Medicine. I joined a large clinical team in a “general genetic counseling” position. I saw it all: genetic diseases affecting people of all ages and all organs and physiological systems, in the culturally rich and socioeconomically mixed patient population that typified Miami. During those years, two insights shaped my future career. First, I realized that mentors from non–genetic disciplines who could bring depth to my training were necessary to my professional growth. I reached out to bioethicists and behavioral scientists, a hospital chaplain, medical communication experts, and members of the perinatal/neonatal nursing and social work bereavement teams, to name a few. Second, the more we identified common ground, the more opportunities I found where my genetic counseling skills were well suited to fill gaps in both clinical care and medical education. Between 1982 and 1986, I became assistant professor of Medicine and helped design and coordinate a new 125-hour interdisciplinary, experiential behavioral science course required for first-year medical students (Health and Human Values). This resulted in my participation in medical education activities of the Association of American Medical Colleges. In 1983, I presented at a medical student education forum at the ASHG meeting, reporting on attitudinal changes in first-year medical students who followed a patient with a genetic diagnosis for a year. I joined ASHG’s Information and Education Committee and its Task Force on Medical Education shortly thereafter. I was also asked to chair the committee that would write the Code of Ethics of the NSGC. As a clinician, I made myself known as a person who could work with families experiencing an abnormal prenatal diagnosis, stillbirth, or birth of a baby with congenital anomalies. I counseled, listened, casemanaged, and did all I could to ensure that the family would have continuous genetics support and answers to key questions. These patients and families are among my most memorable teachers. My professional life was interesting, rich, and rewarding. I was never bored.

In Memoriam: Rose Grobstein (1917–2011)

Rose graduated with a B.A. from UCLA in 1938 and two years later completed a certificate in Social Work. She worked as a child welfare worker and adoption worker in California, Oregon, New Mexico, Washington, DC, and Maryland before becoming the first social worker in the Premature Research Center at Stanford in 1962. Rose essentially created and defined the role of the pediatric social worker in the newborn intensive care unit (NICU) and began writing and publishing articles on attachment theory and the impact of illness on the family. Through this work, she began to work more and more with families whose children were affected with genetic disorders and became the de facto genetic counselor in the nascent genetic service before anyone had conceived of the profession of genetic counseling or a Master’s Degree in this field. In 1981, Rose became an instructor in the Genetic Counseling Program at UC, Berkeley, a position she would hold for 10 years. She brought her focus on the family into the classroom and influenced a generation of genetic counselors to think in systemic ways when working in the genetics clinic. I believe I owe my first teaching job to Rose. I was hired largely because I put the family first in my outline of what I planned to teach about genetic counseling. And I still hear Rose in me when I ask my students, “What are you afraid of?” or tell them to stop calling it a “fetus” and call it a “baby” because that is how the family thinks. I assign my students Rose’s chapter on amniocentesis [in Genetic Counseling: Psychological Dimensions (Grobstein 1979)] because her views on family and counseling are timeless. Rose left California for Pennsylvania to live near her son and help raise her grandchildren. Several years ago when I had moved to the Philadelphia area and realized Rose and I both lived in Rosemont, I arranged to meet her at her home. L. J. Abrams East Bay Genetic Counseling and Consultation, Lafayette, CA, USA