MEDICAL GENETICS

The specialty of medical genetics developed in tandem with the new and complex clinical genetic services and genetic testing in the 1980s. A clinical geneticist receives specialized training in genetics after completing a pediatric, internal medicine, or obstetric residency. Many work at university medical centers or large hospitals, although some clinical geneticists have private practices. The job of the clinical geneticist is to recognize genetic disorders and birth defects, to understand the significance of these with respect to the well-being of the patient, to arrange for proper treatment, and perhaps most important, to help the patient and/or the patient's family understand and cope with the disorder. Some clinical geneticists work primarily with infants and children. Other clinical geneticists, often those who are first trained as obstetricians, concentrate on the genetic problems of fetuses. Internists with training in clinical genetics work with adult patients who may have familial forms of heart disease, cancer, or neurological disease. There are also opthalmologists, dermatologists, pathologists, and dentists who are clinical geneticists. Great strides are currently being made in many areas of human genetics, leading to deeper understanding of the basic functions of genes. Such technologic advances also give rise to new methods of diagnosis and treatment. An increasingly important role of the clinical geneticist is to act as the link between scientists who are making these technologic advances and patients who may benefit from them.

Profile
The following information reflects responses from 14 medical geneticists who completed the 2003 Pathway Physician's Survey. A. Respondents by types of areas
Rural
7.14%

B. Respondents by gender
Female
28.57%

Large City
21.43%

Small City
14.29%

Metropolitan City
57.14%

Male
71.43%

C. Respondents by years in practice

8 7

Number of Responses

6 5 4 3 2 1 0

1-5 yrs

6-10 yrs

11-15 yrs

16-25 yrs

26-30 yrs

More than 30 yrs

Perspectives
A. Respondents' satisfaction with current specialty/area of work
12

10

Number of Responses

Very satisfied

Somewhat satisfied

Neither satisfied nor dissatisfied

Somewhat dissatisfied

Very dissatisfied

B. Would you choose this specialty again?

Not Sure
7.14%

Yes
92.86%

C. Respondents by practice environment

10

Number of Responses

Academic instution

Acdemic med ctr

Managed care

PPO

IPA

Affiliated w/group

Business/industry

Community

Hospital

D. Respondents' satisfaction with practice environment

6 5

Number of Responses

4 3 2 1 0

Very satisfied

Somewhat satisfied

Neither statisfied nor dissatisfied

Somewhat dissatisfied

Very dissatisfied

Solo practitioner

Hospital other

Practice other

HMO

Mgr care other

Rating and Weighting of Critical Factors

Critical Factors represent significant aspects of physicians experiences in their practices. The rating represents their assessment of their current practice characteristics, while the weighting represents the importance of each factor to physicians. A. Caring for patients: How much time do you spend directly seeing and caring for patients? Rating

= 2.12
7.2

10

No time at all

Most of my time

Weighting

= 0.80
4.2

Not at all important

Very important

B. Continuity of care: How much continuity of care do you have with patients, (i.e., the length of patient relationships)? Rating

= 2.60
6.1

10

Short Term

Long Term

Weighting

=1.02
3.6

Not at all important

Very important

C. Autonomy: To what extent do you have the final word on the treatment of your patients? Rating

=2.31
7.5

10

Very limited autonomy

Great deal of autonomy

Weighting

=0.74
4.4

Not at all important

Very important

D. Diversity: How much routine (similar work) or diversity (different tasks/activities) is involved in your work? Rating

= 1.65
8.6

10

Great deal of routine

Great deal of diversity

Weighting

=0.51
4.6

Not at all important

Very important

E. Personal time: Does your work allow you to control the scheduling and amount of time you spend on personal activities, (i.e., family, leisure)? Rating

= 2.81
5.8

10

Very little flexibility

A great deal of flexibility

Weighting

=1.14
3.9

Not at all important

Very important

F. Expertise: How broad is the scope of your work? Rating

=2.17
7.6

10

Narrow expertise

Broad Expertise

Weighting

=0.65
4.5

Not at all important

Very important

G. Income satisfaction: Compared to all physicians, do you feel you are fairly compensated for the amount of time and effort you spend? Rating

= 1.65
4.4

10

Very dissatisfied

Highly satisfied

Weighting

=0.68
3

Not at all important

Very important

H. Creativity: To what extent does your work provide opportunity for creativity? Rating

= 1.11
8

10

Little opportunity

Great deal of opportunity

Weighting

=0.95
4.1

Not at all important

Very important

I. Certainty of outcomes: How much certainty of clinical outcomes does your work provide? Rating

=1.76
4.5

10

Very little, often "wait and see"

A great deal, outcomes usually clear

Weighting

=0.68
3

Not at all important

Very important

J. Clinical decision-making: On what basis are your clinical decisions made? Rating

= 2.06
5.5

10

Application of theory to a situation

Based on prior evidence of clinical outcomes

Weighting

=1.02
3.6

Not at all important

Very important

K. Patient decision-making: To what extent do your patients have input into decisions about their health care? Rating

=1.57
8

10

Little opportunity

Great deal of opportunity

Weighting

=0.78
4

Not at all important

Very important

L. Interacting with other physicians/members of health-care team: To what extent does your work provide opportunities for you to interact with other physicians/ members of a health-care team? Rating

= 1.66
8.1

10

Very little

A great deal

Weighting

=1.07
3.9

Not at all important

Very important

M. Manual/mechanical activities: How often do you use manual/mechanical activities for highly skilled tasks (i.e., following procedures, performing operations)? Rating

= 0.76
2.5

10

Never

Most of the time

Weighting

=0.66
1.9

Not at all important

Very important

N. Pressure: How much pressure do you have in your work (i.e., dealing with clinical crises, need for immediate decisions about patients, dealing with multiple patients simultaneously). Rating

=1.79
5.9

10

Minimal pressure

High pressure

Weighting

=0.97
3.2

Not at all important

Very important

O. Responsibility: How much responsibility do you assume for patient outcomes in your work? Rating

= 1.51
5.9

10

Limited responsibility

Sole responsibility

Weighting

=0.94
3.5

Not at all important

Very important

P. Schedule: What type of schedule do you have in your work? Rating

=1.94
4.3

10

Regular hours

Irregular and unpredictable hours

Weighting

=0.94
1.9

Not at all important

Very important

Q. Security: How much professional security do you have in your position, (i.e., know where you stand and are certain of your future professionally, will there be a need for your services in the future)? Rating

=2.17
6.6

10

Little security

Great deal of security

Weighting

=1.02
3.6

Not at all important

Very important

R. Sense of accomplishment: To what extent does your work provide the opportunity to see end results? Rating

= 1.49
7.7

10

Little opportunity

Great deal of opportunity

Weighting

=0.76
4.6

Not at all important

Very important

Weekly distribution of time According to the survey, medical geneticists spend their week as follows: Activity Patient care activities On-call(in contact) On-call(available) Administrative Professional travel Continuing education Community service Research Other professional Average Hours per week (may overlap) 24.36 6.43 85.11 8.33 3.64 2.29 2.67 9.42 9.20

Patient profile
A. Patient encounters per week
16 14

Number of Patients

12 10 8 6 4 2 0

Ambulatory

Inpatient

Nursing Home

Telelphone

Terminally Ill Other Encounters

B. Patient characteristics By age Infants(0-2 yrs) Children(3-18 yrs) Adults(19-64 yrs) Older adults(65+ yrs) % 35.79 31.86 28.92 8.56 Percentage of patient encounters that deal with: % Routine check-ups 3.50 Acute illness 16.67 Chronic illness 73.21 Terminal illness 6.64 Percentage of time per patient encounter devoted to: Acute conditions Chronic conditions Preventitive health

% By race Underrepresented minority (URM) 23.79 Non-URM 76.21 By type of insurance Medicaid/Medicare Uninsured Other % 39.43 12.64 47.93

% 13.44 59.38 37.92

C. Five types of illnesses/conditions most frequently encountered Congenital abnormalities Chromosomal abnormalities Counseling Developmental delay Metabolic disorders Number of responses 38 22 20 20 19

Specialty: Medical Genetics

Total survey responses: 14

Summary of comments for question: List up to three other factors, if any, you would advise students to consider carefully before selecting your specialty? Physicians who completed the Pathway Physicians Survey, 2003, submitted the following comments. The majority of comments are categorized by the Critical Factors that are rated and weighted in another section. Numbers in parentheses indicate the total number of responses for a particular comment. 1. Caring for Patients Ability to contribute to care of children with special needs 2. Continuity of Care 3. Autonomy 4. Diversity 5. Personal Time How it can be managed with personal life 6. Expertise Application of basic science Intellectually challenging Expertise involved 7. Income Satisfaction Reimbursement rates for specialty services 8. Creativity 9. Certainty of Outcomes Tolerance for uncertainty 10. Clinical Decision Making Ethical decision-making 11. Patient Decision Making 12. Interacting with Other Physicians/Members of Health-care Team Need to work in a team environment with shared responsibilities 13. Manual /Mechanical Activities Procedures

14. Pressure 15. Responsibility 16. Schedule Call schedule 17. Security Rapidly growing field Need of service in the future The need for the specialty--these things are constantly changing. Geriatrics a good bet now! 18. Sense of Accomplishment 19. Patient Characteristics 20. Types of Illnesses 21. Practice Environment Need to be connected to a research environment Academic environment 22. Health Care Environment 23. Personality/Temperament Personality of physicians in the particular field, e.g., pediatricians and thoracic surgeons are very different people! Scientific interest 24. Miscellaneous Comments Genetics is not self-supporting, depends on interaction with hospital and lab Most non-geneticists have limited understanding of what genetics can and cannot offer First, select surgical vs. non-surgical, adult vs. pediatrics, and carefully consider primary care vs. specialty decision Nobody else knows what you do Ability to keep learning