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19 Recording a Basic Pedigree: The Questions to Ask

19 Recording a Basic Pedigree: The Questions to Ask

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RECORDING A BASIC PEDIGREE: THE QUESTIONS TO ASK



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Any problems with hearing or speech?

Anyone with a short or webbed neck?

Anything unusual about the hair (e.g., coarse, fine, early balding, white patch)?



3.19.1.2 Skeletal System.

Is any family member unusually tall or short? (If so, record the heights of the

person, the parents, and siblings. If someone is short, is he or she in proportion?)

Anyone with curvature of the spine? (If so, did this require surgery or bracing?)

Anyone with multiple fractures? (If yes, inquire as to how many fractures, how

the breaks occurred, the bones that were broken, and the age the fractures

occurred.)

Anyone with an unusual shape to his or her chest?

Anyone with unusually formed bones?

Anyone with unusually shaped hands or feet, such as extremely long or short

fingers or toes, missing fingers or toes? Have the historian describe these

anomalies.

Anyone with joint problems, such that they are unusually stiff or flexible, or

dislocate frequently?



3.19.1.3 Skin.

Anyone with unusual lumps, bumps, or birthmarks? (If so, have the patient describe

them, their location, their coloration, and number.) Were these skin changes

ever biopsied or treated?

Any problems with healing, scarring, or excessive bruising?

Anyone with unusual problems with their fingernails, or toenails, such as absent

nails, or growths under the nails?



3.19.1.4 Respiratory System.

Any family members with any lung diseases? (If so, were they smokers? Were

they treated for the lung condition, and how?)



3.19.1.5 Cardiac System.

Anyone with heart disease? (If so, at what age, and how were they treated?)

Was anyone born with a heart defect? (If so, did they have birth anomalies or

intellectual delay?)

Anyone with heart murmurs?

Anyone with high blood pressure?

Were there any heart surgeries? (If so, what was done, and at what age?)



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GETTING TO THE ROOTS: RECORDING THE FAMILY TREE



3.19.1.6 Gastrointestinal System.

Anyone with stomach or intestinal tract problems? (If so, were they treated for the

problem, and how? How old were they at the age of symptom onset?)



3.19.1.7 Renal System.

Anyone with kidney disease? (If so, were they treated for the problem, and how?

What was their age of onset and their symptoms?)



3.19.1.8 Hematological System.

Anyone with bleeding, clotting, or healing problems?

Have any relatives been told they are anemic?

Have there been relatives who needed transfusions?



3.19.1.9 Endocrine.

Anyone with thyroid problems?

Anyone with diabetes?

Anyone who is overly heavy or thin?



3.19.1.10 Immune System.

Anyone with frequent infections or hospitalizations, or difficulties healing?



3.19.1.11 Reproduction.

Have any relatives had miscarriages or babies who died, severe pregnancy complications, or infertility?



3.19.1.12 Neurological/Neuromuscular.

Anyone with muscle weakness, or with problems with walking?

Do any family members use a cane or wheelchair? (If there are muscle problems,

inquire as to the age at which the problems began and what type of testing was

done, such as a muscle biopsy, nerve conduction velocity, or brain imaging.)

Anyone with strokes or seizures? (If so, at what age did they begin, and what

medications were given.)

Anyone with uncontrolled movements, tics, difficulties with coordination, or spasticity? (If so, at what age did they begin? Were medications given?)

Anyone with slurred speech?



RECORDING A BASIC PEDIGREE: THE QUESTIONS TO ASK



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3.19.1.13 Mental Functioning.

Anyone in the family with mental or intellectual impairment or severe learning

disabilities? Did anyone attend special classes or school, or need help to finish

school? (Note that the term mental retardation is no longer in favor, although

this is a term that is still used commonly by medical professionals and even

used in the family.) Intellectual disability is the preferred description.

If yes, describe the level of functioning and any dysmorphic features. Was the

mother taking any drugs, alcohol, or medications during the pregnancy, or did

she have an illness?

Does anyone have a diagnosis of autism or autistic-like features?

Are there any relatives with problems with thinking or judgment, mental illness,

or severe depression? (If so, have the patient describe the relative’s symptoms,

the age symptoms began, and any known medications.)

3.19.2 General Interview Questions



3.19.2.1 Occupation. Asking about a patient’s occupation helps develop rapport. It also may be a clue to a potential environmental exposure that is contributing

to a disease.

3.19.2.2 Congenital disabilities. I also ask near the end of the interview if

any relatives have a problem present from birth, particularly of the heart, spine, hands

or feet.

3.19.2.3 Drug and Alcohol Abuse. Knowing about drug and alcohol abuse in

the patient and other family members is important for many reasons, If there are abnormal ultrasound findings in a pregnancy or if a child has birth defects with or without intellectual delay, there could be a maternal teratogenic etiology for the problems. Neurological problems can also be related to, or exacerbated by, maternal drug and alcohol

use. The known and suspected human teratogens are listed in Table 3.2. For comprehensive information on agents that are potentially teratogenic and their effects, refer

to REPRORISK (www.micromedex.com/products/reprorisk) and TERIS (Teratogen

Information System at http://depts.washington.edu/terisweb/teris/subscribe.htm). A

human teratogen is defined as an agent that can cause abnormalities of form, function,

or both, in an exposed embryo or fetus (Friedman and Hanson, 2007). Counseling

regarding human teratogens goes beyond memorization of a list of teratogenic agents

and requires knowledge of the overall exposure of the agent (dosage and other concurrent exposures, gestational timing, and route of delivery). The biological susceptibility

of the mother and the embryo to the agent are other factors which whether a potential

teratogen will have a harmful effect (Friedman and Hanson, 2007).

The specific areas to note when inquiring about possible maternal teratogens

include

r What is the drug or medicine? (For medications, ask the patient to bring her

prescription to the appointment.)



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GETTING TO THE ROOTS: RECORDING THE FAMILY TREE



TABLE 3.2



Potential Human Teratogens



Agent

Radiation

Atomic weapons

Radioiodine

Therapeutic radiation

Maternal infections

Cytomegalovirus (CMV)

Herpes simplex virus I and II (primary)

Parvovirus B-19

Rubella virus

Syphillis

Toxoplasmosis

Varicella virus

Venezuelan equine encephalitis

Maternal and metabolic factors

Alcohol

Autoimmune disorders

Early amniocentesis (before day 70 post-conception)

Early chorionic villus sampling (before day 60 post-conception)

Cretinism, endemic

Insulin dependent diabetes (poorly controlled)

Folic acid deficiency

Hyperthermia

Phenylketonuria

Virilizing tumors

Drugs and environmental chemicals

Alcohol

ACE inhibitors

Aminopterin

Androgenic hormones

Bisulfan

Captopril

Chlorobiphenyls

Cocaine

Coumarin anticoagulants

Cyclophosphamide

Diethylstilbestrol

Enalapril

Etretinate

Iodides

Isotretinoin (Accutane)

Lithium

Mercury, organic

Methotrexate (methylaminopterin)

Methylene blue (via interamniotic injection)

Misoprostol

Methimazole

Pencillamine

Phenytoin (Hydantoin)

Polychlorobiphenyls (PCBs) (ingested)

Tetracyclines

(Continued)



RECORDING A BASIC PEDIGREE: THE QUESTIONS TO ASK



TABLE 3.2



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(Continued )



Thalidomide

Toulene (abuse)

Trimethadione

Valproic acid

Possible Teratogens

Binge alcohol use

Carbamazepine

Cigarette smoking

Colchine

Disulfiram

Ergotamine

Fluconazole

Lead

Primidone

Quinine

Streptomycin

Vitamin A

Zinc deficiency

Unlikely Teratogens

Agent Orange

Anesthetics

Aspartame

Asprin

Bendectin

Hydroxyprogesterone

LSD

Marijuana

Medroxyprogesterone

Metronidazole

Oral contraceptives

Progesterone

Rubella vaccine

Spermicides

Video display terminals and electromagnetic waves

Ultrasound

Source: Adapted from Cohen, 1997; Shepard and Lemire, 2007.



r Why was the medication taken? (This may give additional information regarding

a maternal condition, such as diabetes or seizures, which could pose an increased

recurrence risk in offspring of an affected individual.)

r When was the medication taken, and for how long? (Ask for specific dates

because gestational age may not be correct and/or the patient may be counting

the weeks of pregnancy incorrectly.)

r How much did you take?

When inquiring about a patient’s drug and alcohol use, remember that people invariably underestimate usage. Do not ask, “Are you a heavy drinker?” Your patient will

not want to be judged, and will probably reply “no. Instead ask, “How much alcohol

do (did) you use?” or “What drugs do (did) you take?” You can also give an example of

an amount used that is more than what you might believe was actually taken. It is rare

that a patient would ever admit to an amount used greater than you give as an example.



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GETTING TO THE ROOTS: RECORDING THE FAMILY TREE



For patients with a history of substance abuse who are currently pregnant or at risk

for pregnancy, you should also assume the patient is continuing to use the substance

and counsel accordingly. If they have actually stopped using the substance, great, but

if they are continuing to use, then they have the correct information. (I usually buffer

this by saying “You said that you were no longer using this, but if you were, this

would be the consequences to the baby.”



3.19.2.4 Cancer. I usually specifically ask about cancers in the family, because

this information may not be volunteered in the medical systems review. Inquire about

any family members with cancer, the types of primary cancers, the age of onset,

and treatments if known (such as a mastectomy, colectomy, chemotherapy). Also

ask about potential environmnental exposures (such as smoking) or occupational

exposures. The details of inquiring about specific familial cancer syndromes are

outlined in Chapter 5.

3.19.2.5 Ancestors’ Origins (ethnicity). Among the last questions to ask is,

“Do you know which countries your ancestors are from? What do you consider your

ethnic background?” Certain genetic conditions, particularly autosomal recessive

disorders, are more common in certain populations (Table 3.3; see also Chapter 2).

For some genetic disorders, the sensitivity of DNA testing depends on the person’s

ethnic heritage because of the ability of the test to identify founder mutations. Ethnicity refers to a group of people who identify with a common racial, national, tribal,

religious, linguistic, or cultural origin or background.

Usually this information is placed at the top of the pedigree, for all four grandparents, if known. If the country of origin is unknown, you can draw a question mark or

write “unknown” at the top of the lineage.

Patients may wonder why you are inquiring about their ethnic background. They

may fear that you have singled out their ethnic group for genetic screening or testing.

I usually say, “Information about the origins of your ancestors can help us offer you

the most appropriate genetic information and testing. Do you know your country of

origin—where your ancestors were from originally? You may get a reply of “South

Dakota or Nebraska,” to which I reply “Can you be more specific? For instance, were

your ancestors African American, Japanese, Chinese, Native American, English, or

French?” Knowing the village name from small communities is helpful. If someone

is Native American, Alaskan Native or First Nation, it is helpful to ask the tribal

background.

Because an increasing number of genetic tests are becoming available to people

of Ashkenazi heritage (individuals who are Jewish of eastern European ancestry), I

specifically ask, “Is anyone in your family of Russian, German, or Jewish heritage?

Because of atrocities against Jews that surrounded World War II and in other periods

of history, it is not unusual to find that this ancestry was hidden in the family.

Never assume a person’s country of origin by dress, skin color, or language. I

learned this the hard way when I requested a Spanish interpreter for a non-English

speaking client. When a Japanese gentleman arrived from interpreter services, I said,

“You must be in the wrong clinic.” He politely informed me that I was the one who

was misinformed.



RECORDING A BASIC PEDIGREE: THE QUESTIONS TO ASK



75



TABLE 3.3 Examples of Genetic Disorders with a High Carrier Frequency in Certain

Ancestral Groupsa

Population Group



Condition



Inheritance

Patternb



Approximate

Carrier Rate



African (Americans)

Amish (Old Order of

eastern Pennsylvania)



Sickle cell anemia

Ellis van Creveld



AR

AR



1 in 12

1 in 7



Glutaric aciduria I

Breast-ovarian cancer

syndrome

Gaucher type 1

Cystic fibrosis

Tay-Sachs disease

Familial dysautonomia

Canavan disease

Bloom syndrome

Ashkenazi U.S. (New York)

Ashkenazi Poland

Phenylketonuria

Cystic fibrosis

Congenital nephrotic

syndrome

Aspartylglucosaminuria (AGU)

Sickle cell anemia

Carnitine palmityl transferase

Tyrosinemia 1



AR

AD



1 in 10

1 in 40



AR

AR

AR

AR

AR

AR



1 in 18

1 in 30

1 in 31

1 in 31

1 in 41



Ashkenazi Jews



European (northern)

Finnishc



Hispanic (Americans)

Hutterite

French Canadian

Saguenay-Lac

Saint-Jean

Inuit Indian

Iranian Jewish

Mediterranean

(Italy, Greece, Cyprus,

Portugal, southern

Spain)

Mennonite (Pennsylvania)

Ojibway Indian (Canadian)

South African (white)

Southeast Asian

Swedish

Turkish

Yemenite Jewish

Yupik Eskimo



Zuni (New Mexico)

a Some



AR

AR

AR



1 in 231

1 in 101

1 in 50

1 in 25

1 in 14



AR

AR

AR

AR



1 in 30

1 in 18

1 in 16

1 in 66

1 in 20



Propionic acidemia

Inclusion body myopathy 2

Sickle cell anemia

β-thalassemia



AR

AR

AR

AR



1 in 16

1 in 15

1 in 40

1 in 30



Maple syrup urine disease

Glutaric aciduria 1

Porphyria variegate

α-thalassemia (2 gene

deletion)

Glutaric aciduria I

PKU

PKU

Congenital adrenal

hyperplasia

Carnitine palmityl transferase

-1A

Cystic fibrosis



AR

AR

AD

AR



1 in 7

1 in 10

1 in 300

1 in 20



AR

AR

AR

AR



1 in 85

1 in 19

1 in 35

1 in 10



AR



1 in 4



AR



1 in 15



disorders are not of particularly high incidence in a certain ethnic group but because of founder

mutations, carrier screening can be reliable and cost effective (e.g., screening for mutations for Niemann-Pick

type A or mucolipidosis type IV in the Ashkenazi Jewish population).

b AR = autosomal recessive; AD = autosomal dominant.

c For a summary of other genetic disorders that are common and/or are associated with founder mutations in

the Finnish population See www.findis.org

Sources: Boycott et al., 2008; Clarke, 2006; Kessler et al., 2008; Pletcher et al., 2008; OMIM, 2008; Sinnreich

and Karpati, 2006; Watson et al., 2006



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GETTING TO THE ROOTS: RECORDING THE FAMILY TREE



I am encountering a growing number of people who have used DNA for genealogy

ancestry testing. The basic types are tests of the Y chromosome to trace paternal

ancestors and tests of mitochondrial DNA (mtDNA) to trace the maternal lineage.

Thomas Shawker provides a nice summary of this type of testing in Unlocking Your

Genetic History (2004).

3.19.3 It’s All Relative: Consanguinity

One of the final family history questions is: “Are you and your partner, or your parents

or grandparents related as cousins?” Often you are greeted with a nervous laugh, and

an answer of, “Not that we know of.” In the United States, people seem to be sensitive

to questions about unions between relatives, probably because of misinformation

about the risks to offspring of such unions (Bennett et al., 2002, Bittles, 2008).

Marriage between first cousins is legal in about half of the states in America. In

some parts of the world, particularly in the Middle East, at least half the population

is married to a cousin or more distant relative. It is estimated that 1,000 million

persons live in countries where 20–50% of marriages are between couples related

as second cousins or closer (Bittles, 2008). Double first cousins are common (where

two siblings marry another set of siblings, such as two brothers marrying two sisters).

Documenting consanguineous relationships is important for disease risk assessment, particularly for autosomal recessive disorders, because couples who are cousins

are more likely to share deleterious genes in common than a non-related couple.

Noting consanguinity also has increasing importance in cancer risk assessment (see

Chapter 5).

People are often confused by the terms describing kinship. For example, a second

cousin is often confused with a first cousin once removed (Figure 3.10). It is important



Figure 3.10



Symbolization of first cousins, first cousins once removed, and second cousins.



THE FAMILY PHOTO ALBUM



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to work backward through the family history to document exactly how the couple is

related. For example, the clinician might say, “Let me see if I have this correct, your

father and your wife’s mother are brother and sister, therefore you are first cousins.”

If the degree of relationship is not implicit from the pedigree, it should be stated

above the relationship line as shown in the pedigree of the prestigious Darwin and

Wedgwood families (Figure 3.11).

Individuals from different branches of the family with the same last name may

be distantly related. Ancestors from the same small tribes or villages may also be

distantly consanguineous.

Documenting that you have inquired about consanguinity should be noted on every

pedigree. The information “consanguinity denied” or “consanguinity as shown” can

be incorporated in the key or written near the top of the pedigree.



3.20 THE CLOSING QUESTIONS

Before I finish the interview, I always end with these questions:

r Aside from the information that you have given me, are there an conditions that

people say run in your family?

r Do you have any other questions about something that you are concerned may

be genetic or inherited in your family?

r Is there anything that I have not asked you about that you feel is important for

me to know?

Patients always seem to save their burning questions for the last few minutes of

their appointment! Perhaps it takes them some time to warm up to the interview.

Maybe they are embarrassed about something in their family history. Or possibly

nervousness just causes temporary memory loss. Regardless of the reason, always

provide the consultand with a final opportunity to think about additional concerns in

his or her medical-family history.



3.21 THE FAMILY PHOTO ALBUM

If a person in the family is described as having unusual facial or other physical

features, have your patient raid the family photo album. Pictures from a wedding or

family reunion are an easy way to see if people resemble each other. Such pictures

are also a way to determine if any individual is unusually tall or short for the family.

Summer pictures of a beach outing show more flesh, if you are trying to investigate

unusual skeletal features or skin findings. Looking at chronological pictures of the

same individual over a several year period can be useful; some syndromes may be

difficult to identify in childhood, or may be less obvious in an adult than in a child.

Obtain pictures presurgery for persons undergoing any corrective craniofacial surgery

or for repair of hand or feet anomalies.



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Figure 3.11 A pedigree of first cousins; Charles Darwin and his wife, Emma Wedgwood Darwin. Their mutual grandparents, Josiah and Sarah

Wedgwood were also related as cousins.



CONFIDENTIALITY AND FAMILY HISTORY



TABLE 3.4



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Possible Explanations for a Seemingly Unremarkable Family History



Individual has a new mutation (dominant, mitochondrial)

New X-linked mutation (in a male)

Affected person is not the biological child of parent(s) (e.g., misattributed paternity,

adoption, donor egg or donor sperm)

Sex-limited inheritance (e.g., ovarian cancer, prostate cancer)

Seemingly unaffected parent actually has subtle expression of disease/syndrome

Delayed age of onset of symptoms

Reduced penetrance

Small family size

Failure of the clinician to take a three-generation pedigree

Person giving history to clinician lacks knowledge about his/her family history

Intentional withholding of information by historian (e.g., person may feel guilty or

embarrassed or fear discrimination)



3.22 WHAT’S REMARKABLE ABOUT AN UNREMARKABLE

FAMILY HISTORY?

Many times when you take a family history there are no obvious genetic diseases

or familial aggregation of disease. Table 3.4 reviews some common reasons that a

family history of a genetic condition is missed. Clinicians often note in the medical

record that the family history is negative or the person has no family history. I prefer

stating the family history is unremarkable or noncontributory. The word negative

may be misconstrued as a value judgment. All humans have a family history, though

the medical-family history may not affect the current indication for seeing a health

professional.



3.23 CONFIDENTIALITY AND FAMILY HISTORY

A pedigree recorded for clinical purposes should contain key information needed for

risk assessment, and documentation of disease status in relatives. It’s also important

to recognize that pedigrees document sensitive information that should be collected

and maintained with the utmost protection for privacy and confidentiality. Initials or

first names (in lieu of full names) may be enough to identify persons where medical

records are documented and for orientation of discussions with the patient. Use of

birth year or age, year of death or age at death, rather than birth date or date of death,

would be compliant with HIPAA guidelines where exact dates are viewed as private

and protected information (Bennett et al., 2008).

There are no formal guidelines as to whether a family history that is brought

to you by the patient, which may contain an abundance of family identifiers, should

become part of the patient’s permanent medical record. While technically information

provided to you by the patient can be included in the patient’s medical record, in

reality, it is probably wise to be cautious in directly including this chart, as compared

to a pedigree you have created.



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