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Peer-Review Record

Citizens’ Literacy in Genomics: A Delphi Survey of Multidisciplinary Experts in the Field

Genes 2022, 13(3), 498; https://doi.org/10.3390/genes13030498

by Giovanna Elisa Calabrò^1,*,†

, Michele Sassano^1,2,†

and Stefania Boccia^1,3

Reviewer 1: Anonymous

Reviewer 2: Anonymous

Reviewer 3: Anonymous

Genes 2022, 13(3), 498; https://doi.org/10.3390/genes13030498

Submission received: 16 February 2022 / Revised: 3 March 2022 / Accepted: 8 March 2022 / Published: 11 March 2022

(This article belongs to the Special Issue Public Health Genetics and Genomics)

Round 1

Reviewer 1 Report

The number of items and topics to be addressed resulting from the arbitrary cut-off in Round 1 of less than or equal to 2 means the subsequent round with a cut-off of 3 did not provide a realistic content or settings for any educational program. Public (citizen) education requires targeted and focussed and realistic goals. While the results may inform a citizen consultation, the discussion should address those that were of highest priority. Further, some further discussion is warranted of the limited expertise of health professionals in omics and therefore their education and training strategies may need ot be undertaken before any citizenry education initiatives given the emphasis on their roles identified.

Author Response

Dear Editor, Dear Reviewer,

We would like to thank you for your valuable comments and for the opportunity to resubmit our work. We have amended the paper according to the received suggestions and we hope that it now appears improved.

Hereafter point-to-point answers are provided.

Best regards,

Giovanna Elisa Calabrò

REVIEWER 1

Comment 1: The number of items and topics to be addressed resulting from the arbitrary cut-off in Round 1 of less than or equal to 2 means the subsequent round with a cut-off of 3 did not provide a realistic content or settings for any educational program. Public (citizen) education requires targeted and focussed and realistic goals. While the results may inform a citizen consultation, the discussion should address those that were of highest priority.

Answer: We thank the Reviewer for his/her important comments. We agree with the reviewer on the limits related to the arbitrary choice of the cut off proposed for the selection of items in I and II round of our Delphi and we are aware that this is not the only process to be considered for the construction of an educational program for citizens. In fact, we reported in discussion that "the identified items should be further integrated or validated by consulting citizens too”.

However, we would like to specify that the objective of our study was to identify - on the basis of the literature evidence used for the construction of the questionnaire, and the opinion of genomics experts - the main topics, tools, settings and healthcare professionals' backgrounds that might be included in citizens' training initiatives in genomics field.

As regards the cut off selected in the first and second rounds, we have identified a more stringent cut off in the second round precisely to identify the main topics on which to train citizens. However, since the items are numerous, we made some changes in the text by eliminating the term "priority". With our study we identified, with the support of experts, the main characteristics to be considered for the realization of a training initiative on genomics aimed at citizens. Therefore, we also changed the title of the paper.

Comment 2: Further, some further discussion is warranted of the limited expertise of health professionals in omics and therefore their education and training strategies may need ot be undertaken before any citizenry education initiatives given the emphasis on their roles identified.

Answer: We thank the Reviewer for his/her important comment. We agree with the Reviewer: we need professionals trained in the omics sciences. In fact, we underlined this aspect both in the introduction ("the involvement of trained healthcare professionals in the genetic testing process is crucial") and in the discussion of the paper ("These data associated with the low level of citizens' knowledge in the omics sciences field further underlines the healthcare professionals' fundamental role in the education of the general population. In order to address this role appropriately, healthcare professionals should in turn be adequately trained on these issues [5, 132, 143], as their insufficient skills or inadequate attitudes could represent an obstacle to the development of omics sciences and the effective implementation of personalized healthcare. For this reason, this aspect has been indeed addressed by decision makers and public health experts [5] ").

Author Response File: Author Response.pdf

Reviewer 2 Report

General Comments to the Authors:

This article seems timely given the increasing importance of precision health and the author’s previous systematic review work in this area. Findings are equally relevant to medical and public health practitioners. The tables suggest some additional considerations I list below that could be added to the Discussion section. Findings were somewhat predictable given the expert group approached, but are nonetheless significant. Abstract plus a few other lines in the narrative need grammatical updating.

Specific Comments to the Authors:

Abstract –

P. 1 –

line 14: in the healthcare services. -> in healthcare services.

lines 16-17: Two-round of Delphi surveys -> Two rounds of Delphi surveys

lines 18, 21: healthcare professionals’ figures -> healthcare professionals’ backgrounds

line 23: Inter-net -> Internet

lines 31-32: implemented at national and international level -> implemented at a national and international level

line 32: trans-formational -> transformational

Narrative –

P. 2, lines 74, 5 –

Published evidences -> Published evidence -or- Published sources of evidence

were used for the development -> were used by the investigative team for the development

P. 3, line 107 –

Be sure to check whether the n=7 public health physicians was actually n=7 public health physicians and other public health officials

P. 3, line 114 –

“mean age of 56 years” – Why is this figure rounded yet the mean age for the first round has two decimal points included (55.69)?

P. 4, line 125 –

“in the first round (table 2).”: Do you mean “in the second round (table 2)”?

Given the extensive list of items dealt with, you might mention whether participants received any form of compensation.

P. 8, line 173 –

Mention of genetic diseases, common, complex diseases, and multifactoriality calls for a citation.

P. 8, line 184 –

DTC-GTs deemed as an important topic by the experts:

Yet DTC genetic tests as a topic and limitations of genetic tests had separate ratings in the Genetic/genomics tests category (Table 3). Please consider adding a comment about the need to educate healthcare professionals in the limitations of DTC genetic testing, perhaps placing such a comment before the sentence on educating citizens (line 187).

P. 8, line 191 or P. 9, line 220 –

Please consider adding a line on whether the composition of the Delphi survey participants might have influenced their prioritization of discussions with healthcare professionals as a tool for promoting citizen genomic literacy.

P. 9, line 233 –

Research centers and cultural centers (e.g., libraries and science museums) as functional settings:

Both types of centers are useful sources of informal learning for high schools or upper schools attempting to teach young people about genetics, though typically their program incorporation requires outside funding and other support. Their placement in the bottom two rows of Table 5 reflects this underutilization. You might mention these two avenues as available yet often untapped educational resources.

P. 9, line 245 –

Medical specialists in the list of professionals able to educate citizens:

Granted they appear as a category in your survey, it is nonetheless fascinating that they were rated by participants in the second to last position. Usually medical specialists familiar with and utilizing genetic services are viewed as experts in the use of genetic testing. Why were they rated so low by this group? Is it because they miss the preventive outlook mentioned in Table 3, have too little time to act as educators, are not formally trained as health educators, …? Could you please add a sentence on their relative placement within Table 6?

P. 9, lines 250 and 262 –

Remove hyphen from “educa-tion” and “dif-ferently”

Comments for author File: Comments.docx

Author Response

Dear Editor, Dear Reviewer,

Hereafter point-to-point answers are provided.

Best regards,

Giovanna Elisa Calabrò

REVIEWER 2

General Comments:

Comment 1: This article seems timely given the increasing importance of precision health and the author’s previous systematic review work in this area. Findings are equally relevant to medical and public health practitioners. The tables suggest some additional considerations I list below that could be added to the Discussion section. Findings were somewhat predictable given the expert group approached, but are nonetheless significant. Abstract plus a few other lines in the narrative need grammatical updating.

Answer: We thank the Reviewer for his/her comments and suggestions. We made all the required changes and additions. We responded to his/her requests in line by line comments.

Specific Comments to the Authors:

Abstract –

1 –

line 14: in the healthcare services. -> in healthcare services.