Laura Hercher

Living With a Child at Risk for Psychotic Illness: The Experience of Parents Coping With 22q11 Deletion Syndrome: An Exploratory Study

Patients with 22q11 deletion syndrome (22q11DS) have a 25–30% risk of developing schizophrenia, as well as an increased risk for other psychiatric illnesses including bipolar and schizo‐affective disease. As a result, their families may be informed of a risk for psychotic illness years or even decades before the likely age of onset. We performed an exploratory study, surveying 41 caretakers of individuals with 22q11DS, and found that information about the association between 22q11DS and psychiatric disease was omitted at diagnosis a majority of the time and rarely addressed subsequently by pediatricians or other medical specialists, including medical geneticists. Families frequently received their information only from non‐medical sources, principally the Internet. Individuals with 22q11DS often have many medical issues, but a majority of parents indicated that the risk of psychotic illness was their greatest source of anxiety. Looking at how predictive information affects those who receive it is an important adjunct to the development of genetic testing; the experience of these families suggests that in order to use the information to improve outcomes or modify risk it is necessary to receive it in the context of ongoing support and access to resources.

Gender Verification: A Term Whose Time has Come and Gone

The process of testing to determine gender in putatively female athletes was developed in order to prevent cheating, but has devolved instead into a clumsy mechanism for detecting disorders of sexual development (DSD’s). In over thirty years of compulsory testing, individuals with DSD’s have been stigmatized and some have been denied the right to compete, although frequently their condition provided no competitive advantage. More recent guidelines require testing only on a case-by-case basis; the South African runner Caster Semenya was the first major test of this policy, and her experience points to the need for a more sensitive and confidential process. In addition, her case dramatizes the inadequacy of the term “gender verification.” Gender identity is a complex entity and resists simple classification. Sports authorities may set guidelines for who can compete, but they should refrain from taking on themselves the authority to decide who is and who is not a female.

An old problem in a new age: Revisiting the clinical dilemma of misattributed paternity

Clinical genetics has wrestled with the problem of misattributed paternity for decades. While there are no clear directives on policy, surveys suggest that genetics professionals are inclined to avoid disclosure when possible. Changes associated with the increased use of genomic testing will alter the context and may limit the benefits of non-disclosure. Multi-site testing will preclude the uncertainty often associated with single-gene testing. Increased use of genetic testing in clinical and non-clinical settings will create new opportunities for the subsequent unmasking of misattributed relationships, as will the presence of test results in the electronic medical record. Family health history information will become more valuable as it is used more often and to better effect in risk assessment, diagnosis, treatment and reproductive decision-making. These changes associated with genomic testing increase the risks and decrease the benefits associated with the nondisclosure of misattributed paternity. For ethical and practical reasons, genetics professionals, and those who advise them, should consider a greater emphasis on the value of carefully planned disclosure.

Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia

The use of predictive genomic information to improve medical care remains a contentious topic. However, it is generally agreed that the potential of genomics to improve medicine relies on medical care providers’ ability to effectively communicate and put in context the meaning of test results. As the amount of information available increasingly outstrips providers’ ability to offer qualified judgments on what the information means, consumers inevitably will be faced with test results of uncertain significance, as well as difficult questions about what they do or do not wish to know. Results of this survey of 64 primary care doctors in Estonia suggests that it may be inherently difficult for physicians to withhold genetic information obtained by genome scans or sequencing, even when they believe that having that information is not in the best interests of their patient. The descriptive data suggest introducing genomic medicine through primary care physicians, as proposed by the Estonian Genome Center of the University of Tartu, will require further genetics education as well as a carefully developed set of guidelines for determining where, when and how to use test results.

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.

Genetic counseling students’ experiences with mental illness during training: An exploratory study

Abstract Mental illness is a substantive issue for graduate students. We investigated experiences of mental illness during training among genetic counseling students, a subgroup of graduate students for which little data exists on this topic. Genetic counseling students and recent graduates (n = 227) completed an online survey, from who 11 were selected to participate in semi-structured telephone interviews. Thematic analysis and member checking were employed to interpret the interviews. An overarching theme of importance to participants’ mental health during genetic counseling training was safety, with subthemes of: trust/confidentiality, stigma and fear of labeling, developing a unique professional identity, and ability to engage in self care strategies. Our data could help genetic counseling training programs develop strategies to support students’ mental health.

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

PurposeIn response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians.MethodsWe present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics.ResultsFormative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a “typical” patient.ConclusionWe propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.

Genetic Counselors’ Perception of the Effect on Practice of Laws Restricting Abortion

In 2013, twenty-two states enacted seventy provisions restricting access to abortion. The legislation restricted access to abortions by instituting more regulations on providers and facilities, by prohibiting abortion prior to viability, by restricting funding available to patients and by requiring patients to wait a mandatory time period before having a procedure. Genetic counselors are trained to provide unbiased, comprehensive information in a non-directive style in order to allow patients to exercise their reproductive freedom. We developed a survey of 37 questions for genetic counselors to gauge the potential impact these provisions will have on their ability to be a patient advocate. A total of 286 individuals completed the survey; however, not all respondents answered all questions. Qualitative questions complemented quantitative survey entries, allowing respondents to input thoughts and examples. Results indicate genetic counselors in all regions share similar professional opinions about the provisions. More genetic counselors in the South and Midwest noticed changes impacting patients since the provisions have been enacted. These regional differences correlate with the location of states that have seem the greatest increase in antiabortion provisions.