# Presentation: 365492

## Genetic/Genomic Competencies for Public Health

- Columbia University School of Nursing

- American Public Health Association    October 24, 2001

- Stephen Margolis, PhD; Kristine M. Gebbie, DrPH, RN; Andrew Faucett, MS, CGC; Genetics Competencies for Public Health Workforce Team

**Notes:**
Explain your professional role and why you decided this project was needed.
Your role in the creation of this document.

## Why GENOMICSnot Genetics

- Genomics is a new evolving term
- Workgroup chose to encourage “thinking outside the box”

**Notes:**
Genomics is a new term with an evolving definition.  The workgroup did not want people in public health to see “genetics” and file the competencies away.  The role of genetics in public health and healthcare is expanding and will continue to expand in the near future.  

## Genetics is currently thought of in relation to conditions:

- That most people working in public health are rarely involved with
- Learning genetics had limited value for a public health career
- Examples include chromosome abnormalities such as Down syndrome and single gene mutations such as Cystic Fibrosis or PKU

**Notes:**
Usually genetics is housed in Maternal Child Health or Special Children’s Services in public health programs.  It is often seen as primarily clinical with public health providing services not available elsewhere.
No real role or connection for environmental health.

## GENOMICS refers to those conditions plus ....

- Discoveries from the Human Genome Project (HGP) which show that most adult onset and chronic diseases can be partially caused or prevented by genetic factors
- Environmental factors also play a significant role
- Nature and Nurture, not versus

**Notes:**
Old argument of Nature versus Nurture is gone.  Almost all disease can be considered a combination of both.  Even primarily genetic conditions like PKU have the environmental component of diet.

## Two CategoriesRare gene / High risk

- Gene frequency usually less than 10% but risk for disease can be greater than 50%
- HNPCC			Colon Cancer
- BRCA 1 and 2	Breast Cancer
- MODY 1,2,3		Diabetes
- Alpha-synuclein	Parkinson Disease

**Notes:**
These were the first types of genes identified because of the ability to do family studies and the limited co-factors.  Clinical tests are available for most of these and being used.  The actual “disease” may be different, that is breast cancer due to BRCA 1 may be different from sporadic (common) breast cancer.  Previous population studies on environmental influences may be incorrect for these people.  If they were removed from environmental study, the predictive value might be greater for the exposure.  If the future genetic factors will need to be considered when designing studies.
HNPCC – Hereditary Non-Polyposis Colorectal Cancer
BRCA – Breast Cancer
MODY – Maturity onset diabetes of the young – Type 2 diabetes – three different genes
Alpha-synuclein – non A4 component of amyloid precursor – PARK1 gene (Type 1 Parkinson)

## Two CategoriesCommon gene / Moderate risk

- Genes that are very common in the general population (30-50%) but only increase the risk moderately and almost always require environmental factors and other genes
- ApoE			Alzheimer
- Factor V Leiden	Stroke / Clotting
- CCR5			HIV/AIDS resistance

**Notes:**
Just now starting to explode in number.  This is where the largest public health impact will occur.  We soon will have the ability to cheaply screen for several thousand gene variants (SNPS) related to environmental exposures, etc.  We now use such things as cholesterol screening for heart disease, when genetic markers will be more predictive.
Also brings up ethical issues of knowing increased risk without treatment.
ApoE – apolipoprotein E – ApoE allele 4 is a risk factor for the development of both sporadic and familial Alzheimer disease

CCR5 – small inducible cytokine A5 – receptor on cell wall that allows HIV to enter.

## Genomics and Public Health

- Human diseases result from gene-environment interaction
- Public health leadership needed to translate gene discoveries
- Genetics affects all public health functions:  assessment, policy development and assurance
- Public health must plan to train the workforce in order to build genetics capacity across programs

## Human Genome Project future impact

- Understand biological basis of diseases
- Predict disease susceptibility before symptoms
- Interventions targeted to disease biology
- Pharmacotheraphy
- Individualized prevention – *“Individually Sized”*

**Notes:**
Currently we treat most diseases by trying to reduce the symptoms.  Often we don’t understand the biological basis.  By finding the genes involved and then determining the proteins they code for, we will learn the biological basis of diseases.  It may then be possible to target the cause, not the symptom.  It might also be possible to slow down or prevent the onset of adult diseases if we understood the biological basis.

Pharmacogenomics realizes that we react different to medications because of metabolizing enzymes, etc. and that is controlled by genes.

## Genetics Plays a Role in Most Disease

**WHO**

- Heart Disease
- Cancer
- Stroke
- COPD
*Injury*
- Pneumonia / Influenza
- Diabetes
- Suicide
- Kidney Disease
- Chronic Liver Disease

- Heart Disease
- Stroke
- Pneumonia
- HIV / AIDS
- COPD
- Diarrhea
- Perinatal
- Tuberculosis
- Trachea/bronchus/lung cancer
*Traffic Accidents*

**Notes:**
There are now published reports which can show that genes play a role in 9 of the CDC’s leading 10 causes of death and 9 of the WHO’s ten leading causes of death.
Genetics can now be shown to play a role in all but Injury in the CDC list and Traffic Accidents in the WHO list.  And even those are possibilities if you considered reflexes and dexterity, etc.
Currently in public health we look at environmental and lifestyle influences, but are we trained to consider the genetic factors.

## Why Now ?

- Technology will produce inexpensive and efficacious genomic risk tests
- We will have to evaluate relative risk to the community
- We will have to develop focused messages to those at high risk
- Consistent with overall public health workforce initative

**Notes:**
This is a summary of why Genomics now.

## Team Leaders

- Laboratory		Lou Turner
- Administration		Deborah Klein-Walker
- Clinicians		Kristine Gebbie / Mary  				Ellen Mortensen
- Health Educators	Karen Greendale
- Environmentalist	Robert Marino
- Epidemiologist		Peter D. Rumm

**Notes:**
I would show quickly.  The idea with this slide and the next two is to show the number of people and broad representation in this project.

## Team Members

**Notes:**
Again the numbers are what’s important.  You might want to highlight the lab people and/or the epidemiology members for this group.

## CDC Support

- Center for Environmental Health
- 	Office of Genetics
- Public Health Practice Program Office

**Notes:**
Here I would explain that the CDC’s role was support and organization.  The CDC did not write these competencies.

## The Process

- Consistent with other competency definition projects in emerging area of practice
- A combination of expert opinion and consultation with practice field
- Key dates
- March 2000 – Team Leaders Meet
- August 2000 – Teams Meet and Draft 6 Sets
- Drafts Revised & Combined – Email & Conference Call
- March 2001 – Team Leaders Meet – Edit & Cut – Format
- April 2001 – Outside Review by 60+ Associates of Team 	Members
- May 2001 – Comments Combined – Team Leaders Review by Email
- June 2001 – Document Released on OGDP Web Site

**Notes:**
Here I would outline the process.  The key message is that we did our best to keep the Team leaders and members involved in the whole process.  This was not one of those times that a group met and then months later a document was produced.  This was a joint process the entire way.

The result was that the members could OWN this project and feel comfortable supporting it in the future.

## Individual competencies

- Complex combination of knowledge, skills and abilities demonstrated by organization members that are critical to the effective and efficient function of the organization (Center for Public Health Practice, Emory University).

## Competency categories

- All Public Health Workers
- All Professional Workers
- Specialty/Concentration-Specific
- Leaders/administrators
- Clinicians
- Epidemiologists
- Health educators
- Laboratorians
- Environmental health workers

**Notes:**
Two points here – first how we decided to combine competencies and cut to the essential.  There was originally a much longer list, but the group wanted a list that was possible and realistic.  This is the list for now.  It will change in the future as some things become incorporated and new discoveries are made.

Second – the format of a very short list for everyone from the receptionist up.  A list for anyone with professional training.  And then a list specific to some ones primary job responsibility.

A laboratory director would need to incorporate the short list, the professional list and the laboratory list.

## Competency statements have many uses

- Updating/revising job descriptions
*Do appropriate job descriptions include reference to genomics  *
- Employee orientation and training
*As appropriate to program or profession*
- Self-assessment by workers
*Am I able to ...*

## All Public Health workers should

- Demonstrate basic **knowledge **of the **role **that **genomics **has in the development of **disease**
- Identify the **limits **of his/her **genomic expertise**
- Make appropriate **referrals **to those with **more genomic expertise**

**Notes:**
This list is for every one in public health.  The key words are in bold.  In reality every one should meet these goals now.

## All Public Health professionals should

- Apply the basic public health sciences ... utilizing the **genomic vocabulary** ...
- Identify **ethical **and **medical limitations **...
- Maintain **knowledge **on the **development **of **genetic advances**
- Identify the **role **of cultural, social, behavioral, environmental and **genetic **factors in ... **disease**

**Notes:**
Depending on time, I would quickly show these and then concentrate on the lab slides to follow.

## and should

- Participate in **strategic policy planning** ...
**Collaborate **... **to **solve **genomic **related **problems**
- Participate in the **evaluation **of ... **genomic services **in public health
- Develop **protocols **to insure **informed consent **and .. **protection**

## Additionally, as appropriate to discipline, agency or program

- Leaders / Administrators – 9 more
- e.g., communicate to policy makers
- Clinicians – 5 more
- e.g., apply genomic concepts to clinical services
- Epidemiology / Data Management – 9
- e.g., accurately describe sensitivity/specificity of genetics tests

**Notes:**
I would highlight the range of difference for the different groups.  Also talk about the reality that many people in public health wear more than one hat.  As lab director you are also an administrator.

- Health Educators – 7 more
- e.g. differentiate between genomic education and genetic counselling
- Laboratory – 7 more
- e.g., perform genetic assays with appropriate validation studies
- Environmental health workers- 6 more
- apply risk communication principles and genomic knowledge accurately

## Genomic Competencieswww.cdc.gov/genetics/

- <date/time>

- Genomic Competencies_[www.](http://wwwdev.cdc.gov/genomics/default.htm)__[cdc](http://wwwdev.cdc.gov/genomics/default.htm)__[.](http://wwwdev.cdc.gov/genomics/default.htm)__[gov](http://wwwdev.cdc.gov/genomics/default.htm)__[/genetics/](http://wwwdev.cdc.gov/genomics/default.htm)_

- Questions / Comments
- Andy Faucett
- _[aif3@](mailto:aif3@cdc.gov)__[cdc](mailto:aif3@cdc.gov)__[.](mailto:aif3@cdc.gov)__[gov](mailto:aif3@cdc.gov)_

- Columbia University School of Nursing