Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations

Austin, Jehannine; Peay, HL

doi:10.1111/j.1399-0004.2006.00658.x

Cited by 42 publications

(37 citation statements)

References 84 publications

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“…Respondents in this study reported being more willing to discuss a family history of schizophrenia if an individual risk calculation could be provided, thus implying that respondents felt that this is currently not possible. Although it can be challenging, individualized risk assessment for psychiatric illnesses can be performed: empiric risks are available and can be modified according to factors that have been detailed elsewhere [13]. Thus, genetic counselors’ practice might perhaps be enhanced by further education in this area [13,14].…”

Section: Discussionmentioning

confidence: 99%

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Exploring Genetic Counselors’ Perceptions of and Attitudes towards Schizophrenia

Monaco¹,

Conway²,

Valverde³

et al. 2009

Public Health Genomics

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Schizophrenia is a common complex condition, for which no genetic testing is yet clinically available. Genetic counseling for psychiatric disorders is viewed by genetic counselors as a growth area, and to meet any increase in demand it is important to understand existing context. Thus, we surveyed general practice members of the National Society of Genetic Counselors, to examine perceptions and attitudes relating to schizophrenia. A total of 136 genetic counselors completed the survey, of whom 50% were engaged in general practice roles and therefore eligible to participate. Of these, 40% reported ‘rarely’ or ‘never’ asking about psychiatric illness when taking a family history. Some respondents expressed concern that discussing genetics of schizophrenia and providing risk assessment with families may be more confusing or worrisome than helpful. Many counselors reported that patients feel frustrated with the inability of genetic counselors to provide individual risk calculations. It appears that genetic counselors are reluctant to ask patients about psychiatric illness, and are concerned that their services might not be helpful in the context of schizophrenia.

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Section: Discussionmentioning

confidence: 99%

“…Families often want an explanation as to why their family member became ill, may be interested in risks for other family members to become similarly affected or may have questions regarding their own risk that can be addressed by using empiric data as a basis for individualized risk assessment [13]. …”

Section: Introductionmentioning

confidence: 99%

Exploring Genetic Counselors’ Perceptions of and Attitudes towards Schizophrenia

Monaco¹,

Conway²,

Valverde³

et al. 2009

Public Health Genomics

View full text Add to dashboard Cite

show abstract

“…For patients who have questions beyond the knowledge base of their psychiatrists referral for consultation by genetics professional is appropriate. 14 The prospects of genetic testing Will genetic testing be feasible for psychiatric illness? In theory there is a scenario in which testing could be applied in schizophrenia.…”

Section: Individualizing Risksmentioning

confidence: 99%

“…It is also important to remember that the perceived magnitude and impact of risks and probabilities may vary greatly from person to person. 14 After genetic counselling there should be an improved understanding of the following issues:…”

Section: Individualizing Risksmentioning

confidence: 99%

Genetics of schizophrenia: communicating scientific findings in the clinical setting

Roos

2011

Afr. J. Psych

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The expected identification of susceptibility genes for psychiatric disorders may bring new opportunities and expectations from patients and families for the clinical translation of research findings in psychiatric genetics. In this article information is provided about familial risk of schizophrenia with the theory behind individualizing risk of recurrence highlighted. Recent new findings regarding the new genetic frontier, Copy Number Variations (CNV), are summarized and the genetic architecture of familial and sporadic schizophrenia applicable to the clinical situation is reviewed. A scenario in which genetic testing could be applied in velocardiofacial syndrome (VCFS) type schizophrenia is debated. Referring to genetic discrimination in mental disorders, reference is made

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“…Assessing risk for psychotic illness in relatives is further complicated by two other factors: 1) different source studies for empiric data tend to generate slightly different numeric probabilities, and 2) empiric data represent probabilities for individuals to develop illness, which are influenced by complex sets of variables (including individual, family, genetic, and environmental factors). The cumulative effect of these factors is that, when assessing risk, deriving a single discrete numeric probability for an individual to develop psychotic illness is rarely possible or adequate (Austin and Peay, 2006;Austin et al, 2008). Instead, probability empiric data should ideally be presented in the context of confidence intervals, and discussion of how they can be personalized according to aspects of the presenting individual's family history.…”

Section: Introductionmentioning

confidence: 99%

Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: Implications for clinical practice

Austin

Hippman

Honer

2012

Psychiatry Research

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Studies show that individuals with psychotic illnesses and their families want information about psychosis risks for other relatives. However, deriving accurate numeric probabilities for psychosis risk is challenging, and people have difficulty interpreting probabilistic information, thus some have suggested that clinicians should use risk descriptors, such as 'moderate' or 'quite high', rather than numbers. Little is known about how individuals with psychosis and their family members use quantitative and qualitative descriptors of risk in the specific context of chance for an individual to develop psychosis. We explored numeric and descriptive estimations of psychosis risk among individuals with psychotic disorders and unaffected first-degree relatives. In an online survey, respondents numerically and descriptively estimated risk for an individual to develop psychosis in scenarios where they had: A) no affected family members; and B) an affected sibling. 219 affected individuals and 211 first-degree relatives participated. Affected individuals estimated significantly higher risks than relatives. Participants attributed all descriptors between "very low" and "very high" to probabilities of 1%, 10%, 25% and 50%+. For a given numeric probability, different risk descriptors were attributed in different scenarios. Clinically, brief interventions around risk (using either probabilities or descriptors alone) are vulnerable to miscommunication and potentially profoundly negative consequences -interventions around risk are best suited to indepth discussion.

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Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations

Cited by 42 publications

References 84 publications

Exploring Genetic Counselors’ Perceptions of and Attitudes towards Schizophrenia

Exploring Genetic Counselors’ Perceptions of and Attitudes towards Schizophrenia

Genetics of schizophrenia: communicating scientific findings in the clinical setting

Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: Implications for clinical practice

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