Clinical Genome Workgroup Offers Guidance to Clinicians With Minimal Backgrounds in Genetics


Oncologists should refer patients who want traditional genetic counseling and/or have preexisting psychosocial factors that would increase risk of an adverse psychological outcome of counseling.

The Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; has refined selected tools and is offering new advice about genetic testing to clinicians with minimal genetics background. CADRe has developed two rubrics for helping clinicians to better implement genetic testing; these allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians. In a new study, researchers validated that the indication and patient context for genetic testing is highly relevant to the communication approach. 

The workgroup is currently curating a list of 59 medically actionable genes for clinical sequencing. Its goal is to combine CADRe rubrics with communication recommendations that can help oncologists and other busy clinicians operationalize a consent and disclosure process.

“These guidelines are really meant as a starting place, and we intend that clinicians would use their judgement about themselves and their patients to tailor things, and also to ‘flag’ those conditions or situations where clinicians may not realize that traditional genetic counseling would be more strongly encouraged,” said study co-author Kelly E Ormond, MS, CGC, LGC. Ormond is a professor in the department of genetics and Codirector of the Master’s Program in Human Genetics and Genetic Counseling, Stanford University School of Medicine, Stanford, California.

Ormond said oncologists should refer patients who desire traditional genetic counseling as well as those with preexisting psychosocial factors that would make an adverse psychological outcome of counseling more likely.

The CADRe workgroup developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The team conducted a survey with 66 genetic clinicians to assess the consent rubric for nine genes, including three cancer predisposition genes (MLH1, CDH1, and TP53). They also conducted interviews on both rubrics, discussing single gene, panel, and exome testing approaches. In addition, they set up focus groups consisting of family and patient stakeholders, nongenetics specialists, and genetics clinicians, in order to gather information about attitude towards consent and disclosure of genetic testing results.

The workgroup was able to better identify key factors involved in decisions about consent and disclosure discussions for a typical patient. It reported that the two rubrics are ready for pilot testing by nongenetics clinicians. “Our survey data and focus groups really stressed that the test indication and potential limitations are a real challenge, and their existence may significantly influence whether traditional genetic counseling or targeted discussion is recommended as a starting place,” Ormond told Cancer Network.

She said that if both the clinician and the patient feel comfortable with a targeted discussion and its content, it is reasonable to consider for many conditions. In fact, Ormond said there are now data to suggest that many of the traditional cancer genes would be categorized in targeted discussions.

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