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Genetic Counseling for Lupus

Plus, Limitations of Genetic Counseling for Lupus

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Updated February 09, 2009

Genetic Counseling for Lupus

Uncovering the link between genetics, heredity and lupus.

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Does your mother have lupus? If so, do you wonder if you, too, will one day be diagnosed with the disease?

There's good reason to be concerned: Women with lupus have a 10 percent chance of having a daughter with lupus, a 2 percent chance of having a son with lupus, and a 50 percent chance that her children will have a positive ANA.

Genetic counseling can help you figure out your risk, although it does come with a few limitations.

What Is Genetic Counseling?

By researching your family’s medical history and evaluating your medical records, a genetic professional (geneticist, genetic counselor or genetic nurse) can evaluate what your personal risk level is of getting lupus and may refer you for genetic testing depending on that evaluation. After testing, the genetic professional will interpret the results, or refer you to a geneticist who can do so, and then provide guidance on next steps. In some instances, a genetic counselor may become a member of your personal healthcare team.

What Happens During a Consultation?

Consultation may be one-on-one, in a group, or even over the phone, depending on the individual patient’s situation. The process is typically broken into five segments:

  • Assessment
  • Evaluation
  • Communication
  • Support
  • Follow-up

The genetics professional will begin by assessing your medical history. She will likely gather information about you and your family, including the reason for your visit (in this case, wondering what your chances are of developing lupus) and why you believe you are at risk. She will collect your birth history, medical records and assess your current health, as well as that of your immediate family (mother, father) and extended family (grandparents, aunts, uncles). The professional may even ask about your family’s social history and educational background, as those can be helpful clues to help with her evaluation. Physical exams and other medical tests may be requested at this stage, as well.

She will next evaluate – or interpret – the results of any tests, physical exams and medical history. From there, the doctor will share with the patient her “diagnostic impression” of those results. In other words, can she make a clear diagnosis or are further tests and evaluations needed. If she cannot make a diagnosis, it is likely that she will communicate what diseases she has ruled out and then follow up with the patient over time.

The genetic professional also may share information about the disease (in this case, lupus), the expected course of the disease, possible treatments, and any underlying cause. She’ll discuss risk factors for family members and provide information on reproductive options – what chance there may be for passing the disease along to any future children.

Possibly one of the most important components of the genetic counselor’s job is to provide support to the patient and family. This might be as simple as listening to the patient and family members as they air their worries or as involved as offering counseling with respect to sharing the information to others or joining support groups, getting aid from local or federal agencies and so forth.

Finally, the counselor will request follow-up with the patient, if need be, to answer questions, provide further support or speaking with members of the patient’s healthcare team. She will also encourage the patient to return for a consultation if the patient or the patient’s spouse plans on becoming pregnant.

Limitations of Genetic Counseling for Lupus

While there are clear genetic predispositions to SLE, genetics counseling to the extent outlined above is rarely applied to families with SLE. This is because (with a few exceptions) there are dozens of genes thought to be involved, and it is not yet practical to test for them. Also, there are no good tests to screen for lupus in people with no symptons, and no proven methods to prevent disease in genetically susceptible people. Of course, these are all areas of intense research. There is, however, a rare subset of lupus families for whom genetic counseling is most appropriate: Those with complete complement deficiencies. About 80-90% of people with a genetic deficiency in a particular complement protein called C1q will develop lupus.

Finding a Genetics Professional

Your primary healthcare provider can refer you to a genetics professional. If you’re looking on your own, with a little research, you may find area geneticists at universities and medical centers.

Sources: Frequently Asked Questions About Genetic Counseling National Human Genome Research Institute. March 28, 2008.

About Genetics Services GeneTests. University of Washington, Seattle. March 2004.

Basics for Better Living Lupus Foundation of America. January 2009.

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