Roberta Salveson

Alice Kerber

Challenging

19

This case posed many ethical challenges involving a young child in an unstable environment.

Alexandra Grace

Delwin Jacoby

Ethical

31

30.25

29.66666667

Beautiful case with many ethical considerations. No noted GINA discussion; no mention of cost concerns; and would be nice if included references such as recommendations from Gene Reviews regarding established surveillance for this condition. There does exist a comprehensive, updated Gene Review regarding this condition. These recommendations could be initiated by the genetics NP. Thanks for your work!!

Alexandra Grace

Delwin Jacoby

Collaboration

30

Very nice case with great inclusion of other providers and members of the health care team including social services. Please include GINA considerations and references. You mention reaching out to authors regarding the findings, but where are the references. OMIM has a nice clinical synopsis with entry # 617641 which could guide referrals, pt education, etc.

Alexandra Grace

Delwin Jacoby

Challenging

33

Nice case with excellent provider plan and intervention for a challenging pt. Please discuss GINA with this pt and family; and documentation/citing of references regarding guidelines for surveillance and ,management for this condition would be helpful.

Alexandra Grace

Delwin Jacoby

Unexpected

27

This a very interesting case, with excellent history, genetic based PE and pedigree. However, no mention of GINA, no references, no detailed discussion of possible mode of inheritance. You did talk about VUS after the results have returned, but would be nice to cover potential result possibilities before testing such as VUS, likely pathogenic, pathogenic, etc along with consent , cost, GINA, before testing. Excellent discussion regarding cis and trans.

Alexandra Grace

Nancy Ledbetter

Challenging

31

Good example of personalized care.

Alexandra Grace

Nancy Ledbetter

Collaboration

33

Obviously a challenging case with overlapping risk factors for symptoms and social challenges to manage.

Alexandra Grace

Nancy Ledbetter

Ethical

25

Interesting and uncommon case!

Alexandra Grace

Nancy Ledbetter

Unexpected

27

29

29.66666667

Interesting and challenging case.

Alexandra Grace

Susan Montgomery

Unexpected

30

This was a good case study, challenging to explain genetic issues to parents and concerning for follow through on their part. Would have liked more info about contact with family, were there language issues, material given, etc? Thorough PE but no ages on pedigree.

Alexandra Grace

Susan Montgomery

Collaboration

28

This is an interesting case. Pt was referred d/t atypical fx but genetic dx revealed a condition which explained other issues. Heartbreaking scenario of abuse within a complex medical condition.

Alexandra Grace

Susan Montgomery

Ethical

29

This was a good case study showing how a rare disease could miss the differential but be found in testing; given consanguinity the range of possible dx was large; sad that it took 13 years for diagnosis to be established. Genetic testing did provide much needed info for family and nurse was instrumental in getting help for her patient as well as cascade testing in family. Wondering if an interpreter would have been helpful for this family.

Alexandra Grace

Susan Montgomery

Challenging

32

29.75

29.66666667

This was a nice write up. The nurse included a great explanation of offering CMA as initial test and rationale for it. She also provided a lovely discussion of the interaction between herself and the 10 year old patient. Would have liked a bit more reflection on nurse's part regarding this case and her relationship with the patient and her family.

Alexandra Grace

Delwin Jacoby

Ethical

31

Beautiful case with many ethical considerations. No noted GINA discussion; no mention of cost concerns; and would be nice if included references such as recommendations from Gene Reviews regarding established surveillance for this condition. There does exist a comprehensive, updated Gene Review regarding this condition. These recommendations could be initiated by the genetics NP. Thanks for your work!!

Ashley Hendershot

Alice Kerber

Collaboration

26

Nicely written case study; good documentation of review of many concepts in the environment of impact on HCP parents, family and child's development if choice made to test & familial mutation found. Good choice for collaborative case study, but could also been good choice for ethics case study.

Ashley Hendershot

Alice Kerber

Challenging

24

i could see this as a challenging or unexpected case study - not sure which she meant. Applicant seemed to really connect with the client and addressed his concerns in a personalized way.

Ashley Hendershot

Alice Kerber

Ethical

26

25.5

29.16666667

Nice discussion, but missing a few details & feel her rationale for using this as her ethics case study was a little weak.

Ashley Hendershot

Donna Lamp

Collaboration

30

Very well written case study truly identifying how the implications of hereditary cancer genetic testing interpretation influences a family's cancer risk management and psychosocial life decisions. Although this case study topic is collaboration, the applicant addresses some ethical concerns specific to parental consent for childhood testing. It is evident within the case study that this family experienced a comprehensive collaborative approach with a plan for continued genetic counseling, resources, and care coordination. The only case study limitation was the lack of notation of evidence based guideline resources.

Ashley Hendershot

Donna Lamp

Challenging

34

Challenging Case Study This case study provided an educational opportunity for me as a reviewer since I have not yet encountered a similar situation. The intense genetic counseling and comprehensive care coordination were demonstrated in a personalized approach which focused on the challenges associated with BRCA Positive cancer risk management in transgender individuals. The details observed in this case study depicted True individual advocacy and the importance of thoughtful communication/listening skills.

Ashley Hendershot

Donna Lamp

Unexpected

30

Unexpected Outcome Case Study The case study showcases the potential clinical implications of broad hereditary gene panel testing and the intensity of patient counseling required when there is an incidental Pathogenic finding in a gene not associated with the individual's cancer diagnosis. Limited citing of evidence /guideline based resources in support of hereditary risk clinical management recommendations.

Ashley Hendershot

Donna Lamp

Ethical

32

31.5

29.16666667

The case study highlights an ethical concern for individuals undergoing genetic testing who do not have a secured Life Insurance policy. Genetic discrimination can be a barrier to genetic evaluation /testing and remains an important patient care advocacy initiative which differs from state to state. While the case study depicted an ethical topic, there were no guideline based sources referenced regarding CDKN2A Pathogenic gene carrier absolute cancer risk , management ,and/or other cancer risk recommendations.

Ashley Hendershot

Duveen Sturgeon

Ethical

29

x

Ashley Hendershot

Duveen Sturgeon

Challenging

31

This was a well done case and a great example of the need for thorough pre-test counseling.

Ashley Hendershot

Duveen Sturgeon

Unexpected

31

Very interesting and timely case.

Ashley Hendershot

Duveen Sturgeon

Collaboration

31

30.5

29.16666667

Very interesting case. I felt that she approached the many issues in a professional way.

Ashley Hendershot

Alice Kerber

Unexpected

26

I think she mislabeled this case study & the unexpected study - intending this one to be challenging & the other to be unexpected. Several other typos would seem to align with this concept. Not sure how easy it is to mislabel the case studies? This is an interesting case & the applicant seems to have addressed needs of the client with good collaborative efforts & personalized care. Just wish she had noticed the detail of which case study was which... Her discussion in all of her case studies is thorough but she made reference only to ASCO in one case study. From the flow of her ideas, it seems she reads guidelines but I am concerned that she includes has zero citations.

Katie Halbmaier

Carrie Snyder

Ethical

30

Extremely well done! Makes me wonder what more the genetic counselor can add!

Katie Halbmaier

Carrie Snyder

Collaboration

32

Applicant demonstrates comprehrensive knowledge of hereditary cardiac risks and management.

Katie Halbmaier

Carrie Snyder

Unexpected

34

32.75

31.08333333

The applicant has demonstrated comprehensive knowledge in hereditary cardiac. conditions and connective tissue disorders.

Katie Halbamaier

Nancy Ledbetter

Collaboration

28

This applicant is clearly an expert in her field and is very knowledgeable about cardiology genetics, associated genes and management. It will be good to see her doing her own genetic counseling and testing!

Katie Halbmaier

Nancy Ledbetter

Challenging

31

This was a challenging patient interaction and it sounds like it was handled very well, especially in modifying the usual clinic routine - not easily done.

Katie Halbmaier

Nancy Ledbetter

Unexpected

27

Well done assessment of both challenging case and unexpected finding.

Katie Halbmaier

Nancy Ledbetter

Ethical

26

28

31.08333333

Interesting case. Frustrating ethical dilemma.

Katie Halbmaier

Susan Montgomery

Ethical

30

This was a difficult case on several levels. Mom is grieving the loss of her son and has now discovered that he likely had undiagnosed HCM and she is found to carry the pathogenic variant. Also three of her four surviving children have the same variant. She did not show for her followup testing. It is concerning for her and for her at risk children. I would like to have seen a little more effort for outreach for followup as it seems her grief is paralyzing her efforts for followup for herself and her children. In addition, there is the distant relative also testing positive so we know there are a number of at risk relatives who have not been testing. There is no way to connect the dots with this family without violating privacy. It could possibly happen with the male relative as he was aware of the cousin's death, but he also no-showed for his appt.

Katie Halbmaier

Susan Montgomery

Unexpected

31

Interesting case with unexpected clinical finding but also has many other dynamics. Patient's main issue are socioeconomic. She is essentially homeless and until that is resolved, unlikely to followup on complicated cardiac management. SW referral made - good intervention. Patient also described as having tardive dyskinesia likely result of psych meds?-would like to know more about that diagnosis and hx of meds.

Katie Halbmaier

Susan Montgomery

Challenging

35

Really nice write up, especially sensitive to young man's concerns about this sports, career path, etc. So wonderful that nurse was available multiple times for discussion. Truly understood dichotomy of concerns between patient and his mom.

Katie Halbmaier

Susan Montgomery

Collaboration

34

32.5

31.08333333

This is an excellent case study, very thorough. This patient was seen in general cardiology practice and through an excellent medical history and physical exam, the nurse was able to identify possible genetic risks and recommend testing which did identify a positive result which impact the patient and his family. Job well done!

Katie Halbmaier

Carrie Snyder

Challenging

35

Interesting case and excellent collaboration!

Mary Schmitt

Carrie Snyder

Collaboration

28

The case study was well written with evidence of good knowledge of hereditary cancer syndromes. However, the applicant should have addressed the risk for pancreatic cancer and added the pancreatic cancer gene panel and not limit the testing to 10 prostate cancer genes.

Mary Schmitt

Carrie Snyder

Ethical

28

Well written case study that demonstrated comprehensive knowledge of hereditary cancer syndromes, testing and management. I would have offered the option of a multi-gene panel due to paternal family history of cancer.

Mary Schmitt

Carrie Snyder

Unexpected

30

29

27.41666667

The applicant demonstrated comprehensive knowledge of hereditary cancer syndromes and appropriate testing and management of risk.

Mary Schmitt

SMC

Ethical

21

Ethical case study described conflict with managing positive results and not following policy on sending certified letter but allowing patient time to reschedule at her own pace. Also, an ethical question in this case study- Did patient really make her own informed consent or consider coercion and being pushed premature? Was she ready for testing, her results and the extreme recommendations on surgical interventions by her mother. Did we provide her a space to have her own voice- could we have done anything different to be sure?

Mary Schmitt

SMC

Challenging

23

Case study filed as challenging but titled unusual result. Although case study includes many of the metrics- does not really meet criteria expectation for challenging case study example. "Reflection: I chose this case because it taught me to always listen to my patients. I also spoke with this patient’s surgeon and she was surprised to find the areas of atypia in both breasts. She agreed that this patient avoided years of additional imaging, biopsies and perhaps a cancer diagnosis. I learned that familial risk should never be minimized. Sometimes the patient truly knows what is best for them."

Mary Schmitt

SMC

Unexpected

34

Excellent pedigree with detailed fam hx as well as personal hx in this example. Excellent work and nice presentation of this case study. demonstrated knowledge and experience with EBP.

Mary Schmitt

SMC

Collaboration

29

26.75

27.41666667

This case study was complete and demonstrated knowledge, experience and strong clinical judgement.

Mary Schmitt

Tammy McKamie

Unexpected

24

Overall good case study. Well organized and professionally written. Did not include any citations, ed materials utilized, nor and discussion of environmental or lifestyle risk factors.

Mary Schmitt

Tammy McKamie

Collaboration

26

Overall fair case study including detailed personal/fm hx and assessment. Discussion of risk/benefits and poss results. Included discussion of impact on family. Allowed client to be involved in decision making. Did not mention GINA or environmental risk factors or reduction strategies for env risk factors. No citations or references noted. NCCN was used to make decisions on gene panel for testing.

Mary Schmitt

Tammy McKamie

Ethical

30

Overall assessment was well organized and included essentials for determining patients need for hereditary genetic testing but lacked evidence of environmental health risk. Also, no documentation of patient's offspring risk. Did not discuss patient's paternal family history of cancers noted or clarification of the early onset bone cancer being a primary which is rare. Lacked details of feedback and understanding by patient of risk/benefits etc.

Mary Schmitt

Tammy McKamie

Challenging

26

26.5

27.41666667

Overall good case study but did not document any use of handouts or resources other than support group. Did not mention GINA or environmental risk factors or risk reduction of environmental or lifestyle risk factors.

Mary Schmitt

Carrie Snyder

Challenging

30

The case study was well written.

Roberta Salveson

Alice Kerber

Collaboration

32

Applicant seems surprised by mother's anxiety. Would it have been useful to bring in additional Spanish speaking social worker or other cultural support to better understand what is heightening anxiety other than fact that she has passed on something to her child?? where was the father during the visits? I was disappointed in this case study after reading her other cases and it seems she missed the connection. Perhaps it was more challenging because the applicant didn't have ( or describe) definitive management plan or prognosis.

Roberta Salveson

Alice Kerber

Ethical

29

Peds is not my specialty, but reviewing this case ( & the applicant's other cases), has increased my knowledge and understanding of these complex situations. The applicant explains both her thought processes and client situations in a clear and concise manner while explaining the challenges faced.

Roberta Salveson

Alice Kerber

Unexpected

30

27.5

29.91666667

Challenging case - appropriate for ethics or challenging case. Can sense the frustration the applicant felt ans well as her desire to do the best for the family.

Roberta Salveson

Delwin Jacoby

Ethical

33

Applicant described it and her confidence in this case came across - she was not expecting results, but was able to provide information and advocate for the client and support the family. Appreciated that applicant seemed to provide supportive, accepting environment to a family wiht challenges

Roberta Salveson

Delwin Jacoby

Unexpected

30

Challenging case with impressive plan and well documented attempts to meet the needs for this patient and family with extensive cultural and language barriers. Would recommend always discussing GINA and document refences, guidelines for practice.

Roberta Salveson

Delwin Jacoby

Challenging

33

Interesting case with unexpected results. Please document GINA, implications of genetic testing, and include resources to support your decisions and practice (EBP).

Roberta Slaverson

Delwin Jacoby

Collaboration

33

32.25

29.91666667

Interesting case with challenging family interaction. Thanks for your work. You mention the challenge of the family requesting additional visits with different providers to discuss the same results repeatedly. I agree with you this may be lack of understanding or desire to hear a different explanation. However, after working many years in multicultural settings, I think this may also be an inherent skepticism regarding different cultural approaches to healthcare .

Roberta Salveson

Duveen Sturgeon

Challenging

29

x

Roberta Salveson

Duveen Sturgeon

Unexpected

29

Applicant displayed good critical thinking skills that allowed for proper treatment of the client.

Roberta Salveson

Duveen Sturgeon

Collaboration

30

very interesting case involving a rare disease

Robert Salveson

Duveen Sturgeon

Ethical

32

30

29.91666667

Impressive case which serves to reinforce the invaluable input from genetics in the diagnosis and management of challenging multisystem conditions. Thanks for your work. Only suggestions for improvement - always mention GINA and please add citations, references, etc to support and guide your decisions for care (EBP).