Andrea Shugar - Academia.edu (original) (raw)

Papers by Andrea Shugar

American Journal of Human Genetics, Sep 1, 1994

The observation that children with Down syndrome experience a significantly increased risk for le... more The observation that children with Down syndrome experience a significantly increased risk for leukemia was made in the 1950`s. Recent research has revealed that two specific forms of leukemia, acute non-lymphoblastic leukemia (specifically the subtype M7) and transient leukemia (TL) are preferentially associated with trisomy 21. The specific association of these leukemias with trisomy 21 has suggested to others that there may be a gene on chromosome 21 which predisposes to TL and M7 leukemia. If a recessive gene for susceptibility existed, then trisomies arising as a duplication of one parental centromere through a mitotic or meiosis II error would be expected to have a higher frequency of TL and M7 leukemia. The purpose of this study was (i) To test the models which propose that disomic homozygosity is preponderant in cases of TL and M7 leukemia in a Down syndrome population (ii) To further characterize the clinical characteristics of leukemia in the Down syndrome population. We utilized a combination of cytogenetic and DNA polymorphism analyses to determine stage of non-disjunction and parental orgin of the extra chromosome in 18 children with Down syndrome and leukemia. The DNA analyses are reported elsewhere. Among 27 cases of Down Syndrome leukemics, meiosis more » II or mitotic errors were seen in 4 out of 5 informative TL and M7 cases and in only 1 out of 5 cases of other leukemias. Clinical analysis revealed that the frequency of M7 leukemia is significantly higher in DS-leukemics compared to non-Down syndrome-leukemics. A case of Down syndrome TL with subsequent development of M7 leukemia was anecdotal evidence that TL and M7 leukemia may be of common clonal origin. The fact that fewer than 100% of TL and M7 leukemia cases demonstrated meiosis II or mitotic errors indicates that disomic homozygosity is not necessary for the development of these leukemias, however it may be an important factor which predisposes to TL and M7 leukemia in Down syndrome. « less

Paediatrics and Child Health, 2003

Journal of obstetrics and gynaecology Canada, Feb 1, 2007

Resume Objectif Elaborer un document de consensus canadien enoncant des recommandations sur le de... more Resume Objectif Elaborer un document de consensus canadien enoncant des recommandations sur le depistage maternel de l'aneuploidie foetale (p. ex. syndrome de Down et trisomie 18) pendant la grossesse. Options Le depistage de l'aneuploidie foetale pendant la grossesse a debute au milieu des annees 1960; l'âge maternel etait alors utilise a titre de test de depistage. De nouvelles percees, dans le domaine du depistage a partir du serum maternel et par echographie, nous permettent dorenavant d'offrir un test non effractif de depistage a toutes les patientes enceintes, et ce, afin d'evaluer leur risque d'accoucher d'un foetus presentant le syndrome de Down ou une trisomie 18 et de determiner si la tenue de tests effractifs de diagnostic prenatal s'avere necessaire. Le present document examine les options disponibles en matiere de depistage non effractif et formule des recommandations a l'intention des patientes et des professionnels de la sante au Canada. Issues Offrir un depistage non effractif du syndrome de Down ou de la trisomie 18 a toutes les femmes enceintes. Le diagnostic prenatal effractif serait limite aux femmes qui obtiennent, a la suite du depistage non effractif, des resultats se situant au-dela d'un niveau de risque seuil preetabli ou aux femmes enceintes qui auront 40 ans au moment de l'accouchement et qui, a la suite du counseling, choisissent de passer directement a l'amniocentese / au prelevement des villosites choriales (PVC). Parmi les options de depistage non effractif actuellement disponibles, on trouve l'âge maternel conjointement avec (1) un depistage au cours du premier trimestre (DPT) (clarte nucale, marqueurs biochimiques seriques maternels); (2) un depistage serique au cours du deuxieme trimestre; ou (3) un depistage integre en deux etapes, lequel comprend un depistage serique au cours du premier et du deuxieme trimestres, avec ou sans clarte nucale (DPI, DPI serique, contingent et sequentiel). Ces options sont examinees et des recommandations sont formulees. Resultats Une recherche a ete menee dans MEDLINE afin d'en tirer les articles, publies entre 1982 et 2006, portant sur le sujet. Des sondages sur la pratique ont ete menes partout au Canada. Une ebauche de document de consensus a ete redigee et examinee par les membres du comite. Valeurs La qualite des resultats et la classification des recommandations ont ete etablies en fonction des discussions menees et du consensus atteint par les comites de la SOGC (genetique, imagerie diagnostique) et du CCGM (diagnostic prenatal). Avantages, desavantages et couts La presente directive clinique a pour objectif de reduire le nombre des amniocenteses qui ne sont effectuees qu'en fonction du seul âge maternel. Cela a pour avantage de reduire le nombre des grossesses normales qui prennent fin en raison de complications attribuables aux interventions effractives. Tous les tests de depistage comptent un taux intrinseque de faux positif, ce qui peut provoquer une anxiete injustifiee. Une analyse couts-avantages detaillee de la mise en oeuvre de la presente directive clinique reste encore a effectuer, puisque cela necessiterait des donnees de surveillance sanitaire et des ressources de recherche en sante qui ne sont pas disponibles a l'heure actuelle; neanmoins, ces facteurs se doivent d'etre evalues par des initiatives provinciales et territoriales dans le cadre d'une approche prospective.

British Journal of Dermatology, Sep 21, 2018

Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple ski... more Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple skin and eye manifestations (1). Segmental NF1 is confined to a body segment (2) and thought to be caused by somatic mosaicism but few cases are confirmed by molecular testing (2-7). We describe phenotypically 8 patients with molecularly confirmed mosaic NF1 (MNF1). This article is protected by copyright. All rights reserved.

British Journal of Dermatology, Feb 5, 2017

Inactivating SPRED1 mutations cause Legius syndrome, an autosomal dominant RASopathydescribed in ... more Inactivating SPRED1 mutations cause Legius syndrome, an autosomal dominant RASopathydescribed in 20071. Like Neurofibromatosis Type 1 (NF1), features include cafe-au-lait macules and skin fold freckling. Although neurofibromas, optic gliomas, Lisch nodules, tibial pseudarthrosis and nerve sheath tumors are not seen in Legius syndrome, other symptoms and signs common to the RASopathies such as Noonan-like facial features, pulmonary stenosis, pectus deformity and learning disabilities are reported2,3. This article is protected by copyright. All rights reserved.

Journal of obstetrics and gynaecology Canada, Feb 1, 2007

To develop a Canadian consensus document with recommendations on maternal screening for fetal ane... more To develop a Canadian consensus document with recommendations on maternal screening for fetal aneuploidy(e.g., Down syndrome and trisomy 18) in pregnancy. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with Down syndrome or trisomy 18 to determine whether invasive prenatal diagnosis tests are necessary. This document will review the options available for non-invasive screening and make recommendations for Canadian patients and health care workers. To offer non-invasive screening for Down syndrome or trisomy 18 to all pregnant women. Invasive prenatal diagnosis would be limited to women who screen above a set risk cut-off level on non-invasive screening or pregnant women who will be 40 years at time of delivery who, after counselling, chose to go directly to amniocentesis/chorionic villi sampling (CVS). Currently available non-invasive screening options include maternal age combined with (1) first trimester screening (FTS) (nuchal translucency,maternal serum biochemical markers); (2) second trimester serum screening; or (3) two-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (IPS, Serum IPS, contingent and sequential). These options are reviewed and recommendations are made. A MEDLINE search was carried out to identify papers related to this topic that were published between 1982 and 2006. Practices across Canada were surveyed. A consensus document was drafted and reviewed by committee members. The quality of evidence and classification of recommendations followed discussion and consensus by the combined committees of SOGC (Genetics, Diagnostic Imaging)and CCMG (Prenatal Diagnosis). These guidelines are intended to reduce the number of amniocenteses done when maternal age is the only indication. This will have the benefit of reducing the numbers of normal pregnancies lost because of complications of invasive procedures. Any screening test has an inherent false positive rate,which may result in undue anxiety. A detailed cost-benefit analysis of the implementation of this guideline has not been done, since this would require health surveillance and research and health resources not presently available; however, these factors need to be evaluated in a prospective approach by provincial and territorial initiatives.

Journal of obstetrics and gynaecology Canada, Oct 1, 2008

Journal of Genetic Counseling, Nov 28, 2016

Genetic counselors are trained health care professionals who effectively integrate both psychosoc... more Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.

American Journal of Medical Genetics, Mar 1, 2009

Journal of Genetic Counseling, Jun 7, 2016

Mental Handicap Research, Feb 23, 2016

American Journal of Human Genetics, Sep 1, 1994

Description/Abstract A couple presented for prenatal diagnosis for advanced maternal age. A revie... more Description/Abstract A couple presented for prenatal diagnosis for advanced maternal age. A review of the family history revealed that their elder daughter was mentally retarded while their second daughter was of normal intelligence. The father and his brother were both ...

... allows involved parties to engage in open dialogue, debating difficult, complex, value-laden i... more ... allows involved parties to engage in open dialogue, debating difficult, complex, value-laden issues (Arnason, 2000; Savulescu and Momeyer, 1997; M ... Situation: Decision to Stop the Testing, Case 2 Situation: Steve and Angela were referred for genetic counseling with their 4 ...

Pediatric Dermatology, Jun 29, 2020

Cole disease is a rare autosomal dominant genodermatosis with only five cases published in litera... more Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. We report a case of a 3‐year‐old boy of Italian ancestry who presented with hypopigmented skin patches on the upper extremities and multiple yellowish, firm papules and small plaques on his palms and soles. There were similar findings in the family, extending back at least four generations. Whole exome sequence analysis revealed a novel variant of the ENPP1 gene mutation, which has not been previously reported to be associated with Cole disease. Although there is no extracutaneous involvement associated with this condition, accurate diagnosis and variant identification is nevertheless important so that appropriate medical and genetic counseling can be offered to affected individuals and their at‐risk relatives.

British Journal of Dermatology, 2018

Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple ski... more Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple skin and eye manifestations (1). Segmental NF1 is confined to a body segment (2) and thought to be caused by somatic mosaicism but few cases are confirmed by molecular testing (2-7). We describe phenotypically 8 patients with molecularly confirmed mosaic NF1 (MNF1). This article is protected by copyright. All rights reserved.

Journal of Cutaneous Medicine and Surgery, Apr 27, 2017

Pediatric Dermatology, 2022

Café‐au‐lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but ... more Café‐au‐lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the role of an established CALMs screening clinic in diagnosing CALMs‐related disorders.

The Clinical Teacher, 2022

BACKGROUND High-stakes conversations are frequent in Medical Genetics. News shared is often perce... more BACKGROUND High-stakes conversations are frequent in Medical Genetics. News shared is often perceived as "bad" and can lead to patient hostility. Breaking bad news (BBN) is therefore a challenging clinical task for physicians and is often included as a foundational skill in medical education. The methods of teaching this skill are variable, with no widely accepted standard. We propose the use of simulation as a safe and effective training tool. APPROACH Medical Genetics residents participated in a 4-week curriculum on BBN and de-escalating patient hostility and anger. The curriculum consisted of (1) a standardised patient simulation scenario requiring the disclosure of abnormal prenatal test result to a hostile patient, (2) coaching and feedback by genetic counsellors (GCs), (3) reflective exercises, and (4) workshops on de-escalation techniques. Trainees completed a postsimulation survey and postencounter reflection forms. Written comments on the survey and the reflections were analysed for themes. EVALUATION Six junior and four senior residents participated in this curriculum innovation. Analysis of reflections revealed that simulation coupled with the genetic counsellor's (GC) timely feedback and reflection exercise were good education strategies for practicing BBN and de-escalation techniques in a challenging counselling situation. Most of the trainees felt that this teaching approach was successful and should be used for future training. IMPLICATIONS Simulation can help prepare Medical Genetics trainees deliver difficult news and successfully de-escalate a hostile patient encounter. Consideration should be given to counselling and de-escalation simulations as a useful addition to standing curricula for Medical Genetics trainees.

American Journal of Human Genetics, Sep 1, 1994

The observation that children with Down syndrome experience a significantly increased risk for le... more The observation that children with Down syndrome experience a significantly increased risk for leukemia was made in the 1950`s. Recent research has revealed that two specific forms of leukemia, acute non-lymphoblastic leukemia (specifically the subtype M7) and transient leukemia (TL) are preferentially associated with trisomy 21. The specific association of these leukemias with trisomy 21 has suggested to others that there may be a gene on chromosome 21 which predisposes to TL and M7 leukemia. If a recessive gene for susceptibility existed, then trisomies arising as a duplication of one parental centromere through a mitotic or meiosis II error would be expected to have a higher frequency of TL and M7 leukemia. The purpose of this study was (i) To test the models which propose that disomic homozygosity is preponderant in cases of TL and M7 leukemia in a Down syndrome population (ii) To further characterize the clinical characteristics of leukemia in the Down syndrome population. We utilized a combination of cytogenetic and DNA polymorphism analyses to determine stage of non-disjunction and parental orgin of the extra chromosome in 18 children with Down syndrome and leukemia. The DNA analyses are reported elsewhere. Among 27 cases of Down Syndrome leukemics, meiosis more » II or mitotic errors were seen in 4 out of 5 informative TL and M7 cases and in only 1 out of 5 cases of other leukemias. Clinical analysis revealed that the frequency of M7 leukemia is significantly higher in DS-leukemics compared to non-Down syndrome-leukemics. A case of Down syndrome TL with subsequent development of M7 leukemia was anecdotal evidence that TL and M7 leukemia may be of common clonal origin. The fact that fewer than 100% of TL and M7 leukemia cases demonstrated meiosis II or mitotic errors indicates that disomic homozygosity is not necessary for the development of these leukemias, however it may be an important factor which predisposes to TL and M7 leukemia in Down syndrome. « less

Paediatrics and Child Health, 2003

Journal of obstetrics and gynaecology Canada, Feb 1, 2007

Resume Objectif Elaborer un document de consensus canadien enoncant des recommandations sur le de... more Resume Objectif Elaborer un document de consensus canadien enoncant des recommandations sur le depistage maternel de l'aneuploidie foetale (p. ex. syndrome de Down et trisomie 18) pendant la grossesse. Options Le depistage de l'aneuploidie foetale pendant la grossesse a debute au milieu des annees 1960; l'âge maternel etait alors utilise a titre de test de depistage. De nouvelles percees, dans le domaine du depistage a partir du serum maternel et par echographie, nous permettent dorenavant d'offrir un test non effractif de depistage a toutes les patientes enceintes, et ce, afin d'evaluer leur risque d'accoucher d'un foetus presentant le syndrome de Down ou une trisomie 18 et de determiner si la tenue de tests effractifs de diagnostic prenatal s'avere necessaire. Le present document examine les options disponibles en matiere de depistage non effractif et formule des recommandations a l'intention des patientes et des professionnels de la sante au Canada. Issues Offrir un depistage non effractif du syndrome de Down ou de la trisomie 18 a toutes les femmes enceintes. Le diagnostic prenatal effractif serait limite aux femmes qui obtiennent, a la suite du depistage non effractif, des resultats se situant au-dela d'un niveau de risque seuil preetabli ou aux femmes enceintes qui auront 40 ans au moment de l'accouchement et qui, a la suite du counseling, choisissent de passer directement a l'amniocentese / au prelevement des villosites choriales (PVC). Parmi les options de depistage non effractif actuellement disponibles, on trouve l'âge maternel conjointement avec (1) un depistage au cours du premier trimestre (DPT) (clarte nucale, marqueurs biochimiques seriques maternels); (2) un depistage serique au cours du deuxieme trimestre; ou (3) un depistage integre en deux etapes, lequel comprend un depistage serique au cours du premier et du deuxieme trimestres, avec ou sans clarte nucale (DPI, DPI serique, contingent et sequentiel). Ces options sont examinees et des recommandations sont formulees. Resultats Une recherche a ete menee dans MEDLINE afin d'en tirer les articles, publies entre 1982 et 2006, portant sur le sujet. Des sondages sur la pratique ont ete menes partout au Canada. Une ebauche de document de consensus a ete redigee et examinee par les membres du comite. Valeurs La qualite des resultats et la classification des recommandations ont ete etablies en fonction des discussions menees et du consensus atteint par les comites de la SOGC (genetique, imagerie diagnostique) et du CCGM (diagnostic prenatal). Avantages, desavantages et couts La presente directive clinique a pour objectif de reduire le nombre des amniocenteses qui ne sont effectuees qu'en fonction du seul âge maternel. Cela a pour avantage de reduire le nombre des grossesses normales qui prennent fin en raison de complications attribuables aux interventions effractives. Tous les tests de depistage comptent un taux intrinseque de faux positif, ce qui peut provoquer une anxiete injustifiee. Une analyse couts-avantages detaillee de la mise en oeuvre de la presente directive clinique reste encore a effectuer, puisque cela necessiterait des donnees de surveillance sanitaire et des ressources de recherche en sante qui ne sont pas disponibles a l'heure actuelle; neanmoins, ces facteurs se doivent d'etre evalues par des initiatives provinciales et territoriales dans le cadre d'une approche prospective.

British Journal of Dermatology, Sep 21, 2018

Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple ski... more Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple skin and eye manifestations (1). Segmental NF1 is confined to a body segment (2) and thought to be caused by somatic mosaicism but few cases are confirmed by molecular testing (2-7). We describe phenotypically 8 patients with molecularly confirmed mosaic NF1 (MNF1). This article is protected by copyright. All rights reserved.

British Journal of Dermatology, Feb 5, 2017

Inactivating SPRED1 mutations cause Legius syndrome, an autosomal dominant RASopathydescribed in ... more Inactivating SPRED1 mutations cause Legius syndrome, an autosomal dominant RASopathydescribed in 20071. Like Neurofibromatosis Type 1 (NF1), features include cafe-au-lait macules and skin fold freckling. Although neurofibromas, optic gliomas, Lisch nodules, tibial pseudarthrosis and nerve sheath tumors are not seen in Legius syndrome, other symptoms and signs common to the RASopathies such as Noonan-like facial features, pulmonary stenosis, pectus deformity and learning disabilities are reported2,3. This article is protected by copyright. All rights reserved.

Journal of obstetrics and gynaecology Canada, Feb 1, 2007

To develop a Canadian consensus document with recommendations on maternal screening for fetal ane... more To develop a Canadian consensus document with recommendations on maternal screening for fetal aneuploidy(e.g., Down syndrome and trisomy 18) in pregnancy. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with Down syndrome or trisomy 18 to determine whether invasive prenatal diagnosis tests are necessary. This document will review the options available for non-invasive screening and make recommendations for Canadian patients and health care workers. To offer non-invasive screening for Down syndrome or trisomy 18 to all pregnant women. Invasive prenatal diagnosis would be limited to women who screen above a set risk cut-off level on non-invasive screening or pregnant women who will be 40 years at time of delivery who, after counselling, chose to go directly to amniocentesis/chorionic villi sampling (CVS). Currently available non-invasive screening options include maternal age combined with (1) first trimester screening (FTS) (nuchal translucency,maternal serum biochemical markers); (2) second trimester serum screening; or (3) two-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (IPS, Serum IPS, contingent and sequential). These options are reviewed and recommendations are made. A MEDLINE search was carried out to identify papers related to this topic that were published between 1982 and 2006. Practices across Canada were surveyed. A consensus document was drafted and reviewed by committee members. The quality of evidence and classification of recommendations followed discussion and consensus by the combined committees of SOGC (Genetics, Diagnostic Imaging)and CCMG (Prenatal Diagnosis). These guidelines are intended to reduce the number of amniocenteses done when maternal age is the only indication. This will have the benefit of reducing the numbers of normal pregnancies lost because of complications of invasive procedures. Any screening test has an inherent false positive rate,which may result in undue anxiety. A detailed cost-benefit analysis of the implementation of this guideline has not been done, since this would require health surveillance and research and health resources not presently available; however, these factors need to be evaluated in a prospective approach by provincial and territorial initiatives.

Journal of obstetrics and gynaecology Canada, Oct 1, 2008

Journal of Genetic Counseling, Nov 28, 2016

Genetic counselors are trained health care professionals who effectively integrate both psychosoc... more Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.

American Journal of Medical Genetics, Mar 1, 2009

Journal of Genetic Counseling, Jun 7, 2016

Mental Handicap Research, Feb 23, 2016

American Journal of Human Genetics, Sep 1, 1994

Description/Abstract A couple presented for prenatal diagnosis for advanced maternal age. A revie... more Description/Abstract A couple presented for prenatal diagnosis for advanced maternal age. A review of the family history revealed that their elder daughter was mentally retarded while their second daughter was of normal intelligence. The father and his brother were both ...

... allows involved parties to engage in open dialogue, debating difficult, complex, value-laden i... more ... allows involved parties to engage in open dialogue, debating difficult, complex, value-laden issues (Arnason, 2000; Savulescu and Momeyer, 1997; M ... Situation: Decision to Stop the Testing, Case 2 Situation: Steve and Angela were referred for genetic counseling with their 4 ...

Pediatric Dermatology, Jun 29, 2020

Cole disease is a rare autosomal dominant genodermatosis with only five cases published in litera... more Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. We report a case of a 3‐year‐old boy of Italian ancestry who presented with hypopigmented skin patches on the upper extremities and multiple yellowish, firm papules and small plaques on his palms and soles. There were similar findings in the family, extending back at least four generations. Whole exome sequence analysis revealed a novel variant of the ENPP1 gene mutation, which has not been previously reported to be associated with Cole disease. Although there is no extracutaneous involvement associated with this condition, accurate diagnosis and variant identification is nevertheless important so that appropriate medical and genetic counseling can be offered to affected individuals and their at‐risk relatives.

British Journal of Dermatology, 2018

Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple ski... more Neurofibromatosis type 1 (NF1) arises from NF1 variants and deletions and results in multiple skin and eye manifestations (1). Segmental NF1 is confined to a body segment (2) and thought to be caused by somatic mosaicism but few cases are confirmed by molecular testing (2-7). We describe phenotypically 8 patients with molecularly confirmed mosaic NF1 (MNF1). This article is protected by copyright. All rights reserved.

Journal of Cutaneous Medicine and Surgery, Apr 27, 2017

Pediatric Dermatology, 2022

Café‐au‐lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but ... more Café‐au‐lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the role of an established CALMs screening clinic in diagnosing CALMs‐related disorders.

The Clinical Teacher, 2022

BACKGROUND High-stakes conversations are frequent in Medical Genetics. News shared is often perce... more BACKGROUND High-stakes conversations are frequent in Medical Genetics. News shared is often perceived as "bad" and can lead to patient hostility. Breaking bad news (BBN) is therefore a challenging clinical task for physicians and is often included as a foundational skill in medical education. The methods of teaching this skill are variable, with no widely accepted standard. We propose the use of simulation as a safe and effective training tool. APPROACH Medical Genetics residents participated in a 4-week curriculum on BBN and de-escalating patient hostility and anger. The curriculum consisted of (1) a standardised patient simulation scenario requiring the disclosure of abnormal prenatal test result to a hostile patient, (2) coaching and feedback by genetic counsellors (GCs), (3) reflective exercises, and (4) workshops on de-escalation techniques. Trainees completed a postsimulation survey and postencounter reflection forms. Written comments on the survey and the reflections were analysed for themes. EVALUATION Six junior and four senior residents participated in this curriculum innovation. Analysis of reflections revealed that simulation coupled with the genetic counsellor's (GC) timely feedback and reflection exercise were good education strategies for practicing BBN and de-escalation techniques in a challenging counselling situation. Most of the trainees felt that this teaching approach was successful and should be used for future training. IMPLICATIONS Simulation can help prepare Medical Genetics trainees deliver difficult news and successfully de-escalate a hostile patient encounter. Consideration should be given to counselling and de-escalation simulations as a useful addition to standing curricula for Medical Genetics trainees.